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1-273 out of 273 article(s)
Title Author Type Date Words
Brugada Phenocopy Type 1 Secondary to Synthetic Cannabinoids. Amro, Mohammad; Okoro, Kelechukwu U.; Mansoor, Kanaan; Amro, Ahmed; Okhumale, Paul Jul 31, 2020 2191
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome. Kozhevnikov, Oleg; Kralina, Svetlana; Yurasova, Yulia; Kenis, Vladimir; Kircher, Susanne Gerit; Kais Jul 31, 2020 3387
Intrauterine Cataract Diagnosis and Follow-up. Aksay, Sevinc; Bildirici, Ibrahim; Cosar, Cemile Banu; Alanay, Yasemin; Cigerciogullari, Engin Jul 1, 2020 1723
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data. Long, Wei; Zhou, Lingna; Wang, Ying; Liu, Jiaxuan; Wang, Huaiyan; Yu, Bin Jun 30, 2020 5410
Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations in MYO15A as the Probable Cause of Nonsyndromic Deafness in a Chinese Han Family. Wang, Longhao; Zhao, Lin; Peng, Hu; Xu, Jun; Lin, Yun; Yang, Tao; Wu, Hao Jun 30, 2020 2994
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome. Liu, Ziqin; Chen, Xiaobo Jun 1, 2020 3192
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene. Mengen, Eda; Yavas, Aynur Kucukcongar; Ucakturk, S. Ahmet Jun 1, 2020 3643
Oral Rehabilitation with Removable Partial Denture of a Patient with Cleidocranial Dysplasia. Ghomi, Ali Jamali; Soufdoost, Reza Sayyad; Barzegar, Mohammad Saeed; Hemmati, Mohammad Ali May 31, 2020 3337
Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome--Case Series and Literature Review. Zhu, Beidi; Du, Zunguo; Wang, Zhengxin; Li, Yang; Zhang, Jiming; Zhu, Haoxiang May 31, 2020 6145
Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family. Qiu, Yue; Chen, Sen; Wu, Xia; Zhang, Wen-Juan; Xie, Wen; Jin, Yuan; Xie, Le; Xu, Kai; Bai, Xue; Zhan May 31, 2020 4787
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Kumar, Virang; Couser, Natario L.; Pandya, Arti Apr 30, 2020 10901
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. Sabbagh, Sandra; Antoun, Stephanie; Megarbane, Andre Apr 30, 2020 4176
Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi. Karim, Kouser; Dileep, Dhanwati; Munim, Shama Report Apr 30, 2020 2221
Ligneous Periodontitis in a Patient with Type 1 Plasminogen Deficiency: A Case Report and Review of the Literature. Sadasivan, Arun; Ramesh, Roshni; Mathew, Deepu George Apr 30, 2020 5033
Recurrent Hypoglycemia in a Case of Congenital Analbuminemia. Litzel, Martin; Caridi, Gianluca; Lugani, Francesca; Campagnoli, Monica; Minchiotti, Lorenzo; Fischl Mar 31, 2020 3248
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family. Li, Bin; Lu, Bin; Guo, Xuewen; Hu, Shenghui; Zhao, Guihu; Huang, Weihong; Hu, Jianzhong; Song, Kun Mar 31, 2020 5693
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. Bai, Xiaohui; Zhang, Chi; Zhang, Fengguo; Xiao, Yun; Jin, Yu; Wang, Haibo; Xu, Lei Mar 31, 2020 5981
Association between Genetic Polymorphism in Interferon Regulatory Factor 6 (IRF6) & Non-Syndromic Cleft Lip & Palate Cases in Central Indian Population. Hazare, Ananya; Kamble, Ranjit; Shrivastav, Sunita; Suroliya, Kritika Pankaj; Hazare, Deepali; Bidwa Mar 2, 2020 2827
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome. Petter, Cristian; Azevedo Moreira, Lilia Maria; Riegel, Mariluce Jan 1, 2020 6534
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas. Kurtulgan, Hande Kucuk; Altuntas, Emine Elif; Yildirim, Malik Ejder; Ozdemir, Ozturk; Bagci, Binnur; Dec 1, 2019 5750
De Novo CHRNE Mutation: Congenital Myasthenic Syndrome. Tekin, Hande Gazeteci; Yilmaz, Sanem; Aktan, Gul; Gokben, Sarenur Dec 1, 2019 1284
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China. Xu, Aijing; Cheng, Jing; Sheng, Huiying; Wen, Zhe; Lin, Yunting; Zhou, Zhihong; Zeng, Chunhua; Shao, Report Dec 1, 2019 6975
Etiological Study of Various Retinal Diseases in Paediatric Population at a Tertiary Eye Centre, Telangana State. Sultana, Aliya; Hyndavi, Bellaganti Nov 25, 2019 4052
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome. Boonyawat, Boonchai; Charoenpitakchai, Mongkon; Suwanpakdee, Piradee Sep 30, 2019 1837
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. Oswiecimska, Joanna; Dawidziuk, Mateusz; Gambin, Tomasz; Ziora, Katarzyna; Marek, Marta; Rzonca, Syl Clinical report Sep 1, 2019 4480
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. Mosawi, Zakiya Al; Madan, Wafa; Moosawi, Barrak Al; Wadaei, Sayed Al-; Naser, Husain; Ali, Fuad Sep 1, 2019 2486
Haematopoietic stem cell transplantation in South Africa: Current limitations and future perspectives. Grobbelaar, S.; Mercier, A.E.; Verburgh, E.; Brittain, D.; Pepper, M.S. Aug 1, 2019 6981
Iveric bio Advances LCA10 Minigene Programme and Expansion of Orphan Gene Therapy Portfolio with USH2A-Related Inherited Retinal Diseases Programme. Jul 24, 2019 565
Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy: A one-decade single-center experience. Badi, Maryam K. Al-; Azkawi, Hanan S. Al-; Yahyaei, Mouza S. Al-; Mula-Abed, Waad A.; Senani, Aisha Jul 1, 2019 4094
Interaction between MTHFR Polymorphisms and Maternal Age Increases the Risk of Congenital Heart Defects in Down Syndrome. Carlus, S. Justin; Abdallah, Atiyeh M.; Al-Mazroea, Abdulhadi H.; Al-Harbi, Mazen Khalid; Al-Harbi, Report Jun 30, 2019 2635
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation. Dursun, Fatma; Ceylaner, Serdar Jun 1, 2019 4070
An overview of the genetic basis of cardiovascular disease. Laing, N.; Kraus, S.M.; Shaboodien, G. Report Jun 1, 2019 5897
CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of three novel mutations. Ates, Esra Arslan; Onay, Huseyin; Ertam, Ilgen; Ataman, Esra; Hazan, Filiz; Durmaz, Asude; Dereli, T Jun 1, 2019 304
Genetic factors in male infertility. Gokce, Nuriye; Akalin, Hilal; Mermer, Damla Badur; Basgoz, Neslihan; Dogan, Muhammet Ensar; Ekmekcio Jun 1, 2019 303
Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through In Silico Approach. Begum, Noorjahan; Islam, Md Tarikul; Hossain, Shekh Rezwan; Bhuyan, Golam Sarower; Halim, Mohammad A Mar 31, 2019 11782
Scimitar syndrome: A rare case of recurrent pneumonia. Report Mar 31, 2019 1138
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Li, Wu; Mei, Lingyun; Chen, Hongsheng; Cai, Xinzhang; Liu, Yalan; Men, Meichao; Liu, Xue Zhong; Yan, Clinical report Mar 31, 2019 6836
Oman Ministry of Health refutes claim about hereditary diseases. Mar 10, 2019 201
Congenital Hyperinsulinism and Evolution to Sulfonylurea-responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation. Isik, Emregul; Demirbilek, Huseyin; Houghton, Jayne A.; Ellard, Sian; Flanagan, Sarah E.; Hussain, K Report Mar 1, 2019 3773
Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions. Cobert, Lauren T. Report Mar 1, 2019 8097
Genomic medicine for inherited eye disease: This article provides a guide to the basics of genetic eye disease and how we are moving to the era of genomic medicine in ophthalmology. Moosajee, Mariya Feb 1, 2019 3331
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report/Sindrome de Wiedemann-Steiner por una nueva variante patogenica en KMT2A: reporte de un caso. Ramirez-Montano, Diana; Pachajoa, Harry Estudio de caso Jan 1, 2019 3980
Interaction Effect of Rsal and BamHI Polymorphisms of TGF[alpha], BMP2 and BMP4 on the Occurrence of Non-Syndromic Cleft Lip and Palate in Iranian Patients. Samadi, Saba; Ebadifar, Asghar; Hamid Reza Khorshid, Khorram; Kamali, Koorosh; Badiee, Mohammadreza Report Oct 1, 2018 3570
KIF21A Gene c.2860C>T Mutation in CFEOMlA: The First Report from Iran. Ramahi, Masoomeh; Rad, Abolfazl; Shirzadeh, Ebrahim; Najafi, Maryam Case study Oct 1, 2018 2003
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India. Dayal, Devi; Seetharaman, Keerthivasan; Panigrahi, Inusha; Muthuvel, Balasubramaniyan; Agarwal, Ashi Case study Sep 1, 2018 3043
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia. Haliloglu, Belma; Tuzun, Heybet; Flanagan, Sarah E.; Celik, Muhittin; Kaya, Avni; Ellard, Sian; Ozbe Case study Sep 1, 2018 2967
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib. Galli-Tsinopoulou, Assimina; Kotanidou, Eleni P.; Kleisarchaki, Aggeliki N.; Kauli, Rivka; Laron, Zv Case study Sep 1, 2018 3043
CONSANGUINITY AND RISK OF CONGENITAL DEFECTS- A SYSTEMATIC REVIEW. Hemant, Charmode Sundip; Huchechesha, Kadlimatti Report Jul 30, 2018 4997
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Hogan, Gregory J.; Vysotskaia, Valentina S.; Beauchamp, Kyle A.; Seisenberger, Stefanie; Grauman, Pe Jul 1, 2018 7085
MOH MEDICAL CHECK-UPS FOR HEREDITARY DISEASES TO INCLUDE GRADE 11 STUDENTS. May 8, 2018 599
Adults with congenital heart defects at high risk of gland cancer. Apr 3, 2018 353
Adults with congenital heart defects at high risk of gland cancer. Apr 3, 2018 412
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. Xu, Yang-Qi; Liu, Xiao-Li; Huang, Xiao-Jun; Tian, Wo-Tu; Tang, Hui-Dong; Cao, Li Report Apr 1, 2018 1380
Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?/ENPP1 p.D85H Mutasyonu Hipofosfatemik Rikets ile iliskili Olabilir mi? Coskunpinar, Ender; Tekin, Sakin; Palanduz, Sukru; Avci, Hakan; Cefle, Kivanc; TIryakIoglu, N. Ozan; Clinical report Apr 1, 2018 1629
A case of multiple dental anomalies: a variant of Ekman-Westborg--Julin trait. Colakoglu, Gizem; Kazak, Magrur; Buyukbayram, Isil Kaya; Elfin, Mehmet Ali; Bedeloglu, Elcin Apr 1, 2018 1949
Adults with congenital heart defects at high risk of gland cancer. Mar 29, 2018 410
THE ROLE OF 21-HYDROXYLASE DEFICIENCY IN THE PATHOGENESIS OF BEHCET DISEASE / BEHCET HASTALIGI PATOGENEZINDE 21-HIDROKSILAZ EKSIKLIGININ ROLU. Gul, Nurdan; Gul, Ahmet; Inanc, Murat; Ocal, Lale; Aral, Orhan; Alagol, Faruk Mar 1, 2018 3027
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome. Bulut, Fatma Derya; Kor, Deniz; Yilmaz, Berna Seker; Yilmaz, Mustafa; Altintas, Derya Ufuk; Ceylaner Clinical report Mar 1, 2018 1493
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. Zeitz, Christina; Mejecase, Cecile; Stevenard, Mathilde; Michiels, Christelle; Audo, Isabelle; Marmo Jan 1, 2018 5562
Genetic Polymorphism in the RYR1 C6487T Is Associated with Severity of Hypospadias in Chinese Han Children. Zhang, Haiyan; Zhang, Zhuo; Jia, Linpei; Ji, Wei; Li, Hai Jan 1, 2018 5023
Pheochromocytoma in Congenital Cyanotic Heart Disease. Aresta, Carmen; Butera, Gianfranco; Tufano, Antonietta; Grassi, Giorgia; Luzi, Livio; Benedini, Stef Jan 1, 2018 1879
A Rare Case of Severe Congenital RYRl-Associated Myopathy. Laforgia, Nicola; Capozza, Manuela; de Cosmo, Lucrezia; Di Mauro, Antonio; Baldassarre, Maria Elisab Jan 1, 2018 3717
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Su, Chang; Liang, Xue-Jun; Li, Wen-Jing; Wu, Di; Liu, Min; Cao, Bing-Yan; Chen, Jia-Jia; Qin, Miao; Report Jan 1, 2018 4166
Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. Wu, Xia; Wang, Shan; Chen, Sen; Wen, Ying-ying; Liu, Bo; Xie, Wen; Li, Dan; Liu, Lin; Huang, Xiang; Jan 1, 2018 2973
Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth. Waldman, Leah E.; Williamson, Alex K.; Amodio, John B.; Collins, Lee Jan 1, 2018 1516
Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia. Tran, Tham Thi; Van Vu, Quang; Wada, Taizo; Yachie, Akihiro; Minh, Huong Le Thi; Nguyen, Sang Ngoc Jan 1, 2018 2037
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? Pelizzo, Gloria; Puglisi, Aurora; Lapi, Maria; Piccione, Maria; Matina, Federico; Buse, Martina; Mur Jan 1, 2018 2535
Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management. Kustrzycka, Dorota; Mikulewicz, Marcin; Pelc, Anna; Kosior, Piotr; Dobrzynski, Maciej Jan 1, 2018 2471
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. Namatame-Ohta, Noriko; Morikawa, Shuntaro; Nakamura, Akie; Matsuo, Kumihiro; Nakajima, Masahide; Tom Jan 1, 2018 3130
Septate Uterus in a Girl with Rubinstein-Taybi Syndrome. de Castro Coelho D, Filipa; Camara, Sara; Alves, Ines; Brazao, Kathleen Jan 1, 2018 1864
15q23Gain in aNeonate with a GiantOmphaloceleandMiiltiple Co-Occurring Anomalies. Zhou, Hui-Faag; O'Conor, Christopher J.; Gangahar, Chiraag; Dohnor, Louis P. Jan 1, 2018 2758
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. Bhutada, Ekta; Pyragius, Timothy; Petersen, Scott G.; Niemann, Frans; Matsika, Admire Jan 1, 2018 1998
New Gene Therapy Switches Out Blindness Mutation. Dec 20, 2017 423
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. Gong, Ruo-Lan; Wu, Jing; Chen, Tong-Xin Report Dec 1, 2017 1081
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis. Liu, Jing; Bu, Juan Report Nov 20, 2017 2213
Further Evidence for the Implication of LZTR1, a Gene Not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome. Ghedira, Nehla; Kraoua, Lilia; Lagarde, Arnaud; Abdelaziz, Rim Ben; Olschwang, Sylviane; Desvignes, Nov 1, 2017 2419
Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome): A Case Study in an Omani Family. Shatla, Emad Sadek; Prashanth, Gowda Parameshwara; Aguiar, Rodney; Shivalingam, Ganji; Haq, Adeel Ah Case study Nov 1, 2017 1849
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Colak, Ruya; Ozdemir, Senem Alkan; Ergon, Ezgi Yangin; Kagnici, Mehtap; Calkavur, Sebnem Nov 1, 2017 1937
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle. Zhang, Ying; Dai, Yi; Han, Jing-Na; Chen, Zhao-Hui; Ling, Li; Pu, Chuan-Qiang; Cui, Li-Ying; Huang, Report Oct 5, 2017 2403
Ellis-van Creveld with an unusual dental anomaly: A case report. Nethan, Suzanne Tanya; Sinha, Shruti; Chandra, Sunira Case study Sep 1, 2017 1991
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. Wang, Wei-Yan; Sun, Yi; Zhao, Wen-Ting; Wu, Tai; Wang, Liang; Yuan, Tian-Ming; Yu, Hui-Min Report Sep 1, 2017 5120
An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. Flanagan, Sarah E.; Dung, Vu Chi; Houghton, Jayne A.L.; de Franco, Elisa; Ngoc, Can Thi Bich; Damhui Report Sep 1, 2017 2989
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings. Ozhan, Bayram; Anlas, Ozlem Boz; Sarikepe, Bilge; Albuz, Burcu; Gunduz, Nur Semerci Case study Sep 1, 2017 3239
A Novel Gap Junction Alpha 8 (GJA8) Mutation Associated with a Congenital Cataract Patient in Pakistan. Zahid, Ayesha; Muazzam, Ammara; Mustafa, Sidra; Irshad, Saba; Mahmood, Malik Siddique; Shahzad, Rehm Report Aug 31, 2017 2680
A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment. Report Aug 31, 2017 3126
A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation. Gurbuz, Fatih; Turan, Ihsan; Tastan, Mehmet; Topaloglu, Ali Kemal; Yuksel, Bilgin Brief article Jun 1, 2017 301
Gene Conversion and Congenital Adrenal Hyperplasia: Two Case Reports. Balasar, Mine; Eklioglu, Beray Selver; Tasdemir, Pelin; Atabek, Mehmet Emre Clinical report Jun 1, 2017 310
Impact of CYP21A2 Gene Mutations on Clinical Management of Congenital Adrenal Hyperplasia. Sanri, Aslihan; Ozyilmaz, Berk; Albayrak, Hatice Mutlu; Altundag, Engin; Alpaslan, Mediniye Karadag; Author abstract Jun 1, 2017 318
Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy. Su, Xueying; Lin, Ruizhu; Huang, Yonglan; Sheng, Huiying; Li, Xiaofei; Ting, Tzer Hwu; Liu, Li; Li, Report Mar 1, 2017 3918
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia. Panzer, Karin; Ekhaguere, Osayame A.; Darbro, Benjamin; Cook, Jennifer; Shchelochkov, Oleg A. Case study Mar 1, 2017 2562
Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Recurrent Syncope. Bhogal, Sukhdeep; Ladia, Vatsal; Sitwala, Puja; AlBalbissi, Kais; Paul, Timir Case study Jan 1, 2017 2721
End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases. Alawi, Intisar Al; Salmi, Issa Al; Mawali, Adhra Al; Maimani, Yacoub Al; Sayer, John A. Jan 1, 2017 4061
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years. Morishita, Kae; Kyo, Chika; Yonemoto, Takako; Kosugi, Rieko; Ogawa, Tatsuo; Inoue, Tatsuhide Clinical report Jan 1, 2017 3513
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Nguyen, Thi Kim Lien; Pham, Van Dem; Nguyen, Thu Huong; Pham, Trung Kien; Nguyen, Thi Quynh Huong; N Clinical report Jan 1, 2017 4663
Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Najafi, Kimia; Kariminejad, Roxana; Hosseini, Kaveh; Moshtagh, Azadeh; Abbassi, Gole Maryam; Sadatia Clinical report Jan 1, 2017 1973
Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. Bulut, Ozgul; Zeynep, Ince; Altunoglu, Umut; Yildirim, Sukran; Coban, Asuman Clinical report Jan 1, 2017 1682
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies. Bloor, Samuel; Giri, Dinesh; Didi, Mohammed; Senniappan, Senthil Clinical report Jan 1, 2017 2835
Further Evidence That the CFTR Variant c.2620-6T>C Is Benign. Wallerstein, Violet I.; Wallerstein, Robert Clinical report Jan 1, 2017 867
Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link? Termos, Salah; AlKabbani, Majd; Ulinski, Tim; Sanjad, Sami; Kotobi, Henri; Chalard, Francois; Aoun, Clinical report Jan 1, 2017 2235
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. Tanaka, Tomoko; Harris, Catharine J.; Barnett, Sarah S.; Litofsky, N. Scott Clinical report Jan 1, 2017 2600
Parental Genetic Variants, MTHFR 677C>T and MTRR 66A>G, Associated Differently with Fetal Congenital Heart Defect. Guo, Qian-nan; Wang, Hong-dan; Tie, Li-zhen; Li, Tao; Xiao, Hai; Long, Jian-gang; Liao, Shi-xiu Report Jan 1, 2017 5823
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. Brennan, Alisa; Kesavan, Anil Case study Jan 1, 2017 2202
Engineering of Systematic Elimination of a Targeted Chromosome in Human Cells. Sato, Hiroshi; Kato, Hiroki; Yamaza, Haruyoshi; Masuda, Keiji; Nguyen, Huong Thi Nguyen; Pham, Thanh Report Jan 1, 2017 2723
OGUCHI DISEASE - TWO PATIENTS WITH VARIABLE GENE MUTATION AND OPTICAL COHERENCE TOMOGRAPHY FINDINGS. Report Dec 31, 2016 1001
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus. Unal, Sevim; Gonulal, Deniz; Ucakturk, Ahmet; Bilgin, Betul Siyah; Flanagan, Sarah E.; Gurbuz, Fatih Case study Dec 1, 2016 2952
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. Prochazkova, Dagmar; Hruba, Zuzana; Konecna, Petra; Skotakova, Jarmila; Fajkusova, Lenka Case study Dec 1, 2016 1076
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism. Guven, Ayla; Cebeci, Ayse Nurcan; Ellard, Sian; Flanagan, Sarah E. Report Jun 1, 2016 5698
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. Zheng, Xiao; Ma, Shao-Gang; Qiu, Ya-Li; Guo, Man-Li; Shao, Xiao-Juan Case study Jun 1, 2016 2339
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient. Sriphrapradang, Chutintorn; Thewjitcharoen, Yotsapon; Chanprasertyothin, Suwannee; Nakasatien, Soont Case study Jun 1, 2016 2938
Averting the legacy of kidney disease focus on childhood. Ingelfinger, J.R.; Kalantar-Zadeh, K.; Schaefer, F. Report May 1, 2016 4360
Alarm over hereditary diseases. Mar 11, 2016 539
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. Liu, Shiguo; Chai, Jian; Zheng, Guohua; Li, Huichao; Lu, Deguo; Ge, Yinlin Report Mar 1, 2016 3054
Averting the Legacy of Kidney Disease-Focus on Childhood. Ingelfinger, Julie R.; Kalantar-Zadeh, Kamyar; Schaefer, Franz Editorial Mar 1, 2016 4471
Genetic Link Between Heart & Neurodevelopmental Disease. Dec 5, 2015 733
Harlequin ichthyosis: a case report. Ukkali, Sadashiva; Patil, Veena; Rajgoli, Emad A.; Kutty, Jafar Moideen; Desai, Mohammed Zeeshan Nov 12, 2015 1290
Alstrom Syndrome: a case report. Shivakumar, B.R.; Hareesh, R.; Rekha, G. Nov 12, 2015 2098
Two cases of myocardial infarction in children. Ray, Hemant Narayan Oct 27, 2014 1267
A case report of late survival in Ellis: Van Creveld syndrome. Ray, Hemant Narayan Oct 23, 2014 1452
A case of autosomal dominant bilateral familial Aniridia. Ganagi, Srinivas M.; Budihal, Shivaraj Apr 21, 2014 1967
Genetic diseases tackled by Centre for Arab Genomic Studies in Dubai. Aug 22, 2013 738
Gene clues for testicular cancer, heart defect. May 14, 2013 232
Opening Scientific Training Forum for Diagnosing and Treatment of Leukemia and Blood Hereditary Disorders. Jan 30, 2013 177
The phenotype-genotype relationship in severe congenital neutropenia patients. Baris, Safa; Aydiner, Elif Karakoc; Kiykim, Ayca; Cagan, Havva Hasret; Boztug, Kaan; Barlan, Isil Dec 1, 2012 3992
Stem cell model for hereditary disease developed. Nov 5, 2012 629
SQU Signs a Contract to Establish National Centre for Blood Hereditary Diseases and Bone Marrow Transplant. Nov 4, 2012 644
Stem cell model for hereditary disease developed. Oct 29, 2012 628
Stem cell differentiation study probes genetic basis of heart disease. Sep 17, 2012 858
Geneticist seeks to reduce hereditary disease incidence. Aug 4, 2012 470
Lifestyle changes can delay hereditary diseases. Jul 21, 2012 286
Three -way IVF 'ethical" says report; Treatment tackles genetic disorders. Jun 12, 2012 462
Scientists Make Groundbreaking Discovery Of Mutation Causing Genetic Disorder In Humans. May 18, 2012 1374
Mutation behind rare genetic disorder identified. May 15, 2012 600
Scientists make discovery of mutation causing genetic disorder in humans. May 14, 2012 372
Bilateral congenital lacrimal fistulae: a case report. Zhuang, Lei; Sylvester, Christin L.; Simons, Jeffrey P. Case study May 1, 2012 1183
Birth defect causes 'unlocked'. Apr 6, 2012 361
The impact of molecular techniques on cytology. Burton, Ruth Apr 1, 2012 2058
DNA analysis for detection of genetic diseases. Snyder-Leiby, Teresa Apr 1, 2012 898
Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: Case report of a subject with Adams-Oliver syndrome. Clinical report Mar 31, 2012 2008
New Molecule Has Potential to Help Treat Genetic Diseases and HIV. Feb 15, 2012 695
Evaluation of hemoglobinopathy screening results of a six year period in Turkey. Arica, Secil Gunher; Turhan, Ebru; Ozer, Cahit; Arica, Vefik; Silfeler, Dilek Benk; Silfeler, Ibrahi Report Feb 1, 2012 2069
Qualitative and quantitative examination of household hazardous waste in Tehran. Ziaee, Shima; Omrani, Ghasemali; Agha, Mina Makie Ale; Mansouri, Nabioallh Report Feb 1, 2012 3351
WOMB CURE FOR GENETIC DISEASES; 'Three parent' DNA swap ensures healthy kids. Jan 20, 2012 386
WOMB CURE FOR GENETIC DISEASES. Jan 20, 2012 393
Soon, genes from 3 parents could eradicate incurable genetic diseases. Jan 20, 2012 409
Research cash to offer new hope on inherited diseases. Jan 20, 2012 1462
Little Ava's full of life, you'd never even think she had an illness. Jan 20, 2012 487
Cystic fibrosis gets a breath of fresh air. Taylor, Matthew R.G. Jan 1, 2012 699
NHGRI broadens sequencing program focus on inherited diseases, medical applications. Brief article Dec 6, 2011 124
HHS calls for newborn heart disease screening. Wendling, Patrice Nov 1, 2011 902
Birthday reaches new high; Teenager turns 14 climbing England's highest mountain. Aug 6, 2011 492
Congenital fixation of the head of the stapes in three family members. Wetmore, Stephen J.; Gross, Andrew F.L. Clinical report Aug 1, 2011 2290
Genetic disorders in the Indian community of South Africa. Winship, W.S.; Beighton, P. Report Jul 1, 2011 2851
Lymphangioma of tongue: a rare entity. Kheur, Supriya M.; Routray, Samapika; Ingale, Yashwant; Desai, R.S. Report Jul 1, 2011 1440
Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism/Atriyal izomerizmli hastalarda NKX2-5 ve HAND1 genlerindeki dizi farkliliklari. Hatemi, Ali Can; Gulec, Cagri; Cine, Naci; Vural, Burcak; Hatirnaz, Ozden; Sayitoglu, Muge; Oztunc, Jun 1, 2011 7530
'I take around 35 tablets a day' Living with the life threatening condition cystic fibrosis requires a lot of planning, work, and sacrifice, as Kayleigh Old told Cathy Owen. Apr 20, 2011 621
Thalassaemia termed as inherited disease. Apr 13, 2011 365
Nephrectomy in patients with Caroli's and ADPKD may be associated with increased morbidity. Aguilar, Martin; Meterissian, Sarkis; Levesque, Sebastien; Andonian, Sero Case study Apr 1, 2011 2057
Hereditary Conditions Such as Legg Perthes Disease Are Not Automatically Considered Pre-Existing, Says Trupanion. Mar 28, 2011 543
Genetic abnormalities discovered after creation of stem cells: will findings help promote safer stem cell-based studies and clinical trials? Clinical report Mar 7, 2011 595
Confocal microscopy in corneal dystrophies/Kornea distrofilerinde konfokal mikroskopi. Kucumen, Raciha Beril; Gorgun, Ebru; Yenerel, Nursal Melda Report Mar 1, 2011 2680
I want to be a dad before it's too late; COUPLE'S CASH BID FOR IVF AFTER DISEASE ROBBED MARC THE CHANCE TO BE FATHER. Feb 11, 2011 662
Rare hereditary disease cases found in Karak. Jan 24, 2011 292
Australian scientists develop iPS cells for rare genetic disease. Jan 24, 2011 319
Australian scientists develop iPS cells for rare genetic disease. Jan 17, 2011 373
Gene linked to congenital heart defect found. Dec 7, 2010 259
Uncommon cause of acute adrenal failure/Akut surrenal yetersizliginin seyrek rastlanan bir nedeni. Qari, Faiza; Nasser, Tariq Case study Dec 1, 2010 1683
GENETICS BID TO CUT BABY DEATH RATES. Oct 6, 2010 545
Distrofia muscular congenita: reporte de caso y revision de la literatura. Acosta Guio, Johanna; Zarante Montoya, Ignacio Oct 1, 2010 2428
UAE 'on track to stamp out genetic disease'. Jul 29, 2010 292
Why incidence of skin cancers is common in people with a genetic disorder. Jun 24, 2010 389
New method can help identify genetic disease in record time. Jun 11, 2010 454
Rhinovirus C and respiratory exacerbations in children with cystic fibrosis. de Almeida, Marina B.; Zerbinati, Rodrigo M.; Tateno, Adriana F.; Oliveira, Cristina M.; Romao, Rena Jun 1, 2010 2405
Repairing a cell's faulty batteries: new method could prevent certain inherited disorders. Saey, Tina Hesman May 8, 2010 305
New Method Developed for Preventing Transmission of Inherited Disorders. Apr 17, 2010 849
'DNA advance gives me hope for future' Fertility treatment could stop more families suffering. Apr 16, 2010 498
Scientists swap eggs' DNA in genetic disease breakthrough. Apr 15, 2010 562
DNA swap technique may block inherited diseases. Apr 15, 2010 377
Breakthrough on inherited diseases; Scientists pioneer revolutionary technique to prevent disorders. Apr 15, 2010 132
DNA advancement may halt transmission of inherited diseases. Apr 15, 2010 377
Genetic abnormalities may reveal prostate cancer survival. Apr 1, 2010 138
Hereditary Condition Causing Limb Weakness Traced to Gene for Rare Disorder. Mar 11, 2010 130
Molecular link bridging two inherited disorders found. Dec 25, 2009 348
Gene linked to congenital heart defects identified. Dec 18, 2009 141
Case report: presentation of lacrimo-auriculodento-digital (LADD) syndrome in a young female patient. McKenna, G.J.; Burke, F.M.; Mellan, K. Report Dec 1, 2009 2624
Surfing the wave of hypertonic saline therapy in cystic fibrosis. Masini, Douglas Nov 1, 2009 1214
Bilateral congenital trigger thumb: a case report and discussion of management. Schessler, Matthew J.; McClellan, W. Thomas Case study Nov 1, 2009 1225
Antenatal testing. Kent, Athol Oct 1, 2009 578
Mechanism related to onset of genetic diseases identified. Sep 18, 2009 250
New IVF technique could wipe out inherited diseases. Aug 27, 2009 260
IVF breakthrough may help fight inherited diseases. Aug 27, 2009 300
Major advance in the war on inherited diseases. Aug 27, 2009 322
Gene breakthrough could banish inherited diseases. Aug 27, 2009 476
Taking on the great race for Vicky. Aug 4, 2009 343
Mice study may better understanding of hereditary diseases that lead to blindness. Jul 9, 2009 399
Recent developments in the pathology of renal tumors: morphology and molecular characteristics of select entities. Yan, Benjamin C.; Mackinnon, A. Craig; Al-Ahmadie, Hikmat A. Report Jul 1, 2009 6711
Pediatric neuroradiology, part 1: Embryologic basis for brain malformation. Bardo, Dianna M.E. Report Jul 1, 2009 4089
Hair cells may revolutionise inherited diseases' treatments. Jun 1, 2009 519
Awareness day highlights DNA's importance. Apr 25, 2009 556
Scientists identify genetic abnormality that can increase blood disorders risk. Mar 16, 2009 259
SUNBATHING PREGNANT CUTS BABY'S RISK OF MS; Vitamin D link to genetic disease. Feb 6, 2009 156
SUNBATHING PREGNANT CUTS BABY'S RISK OF MS; Vitamin D link to genetic disease. Feb 6, 2009 179
Offsprings inherit disease clues from mums. Jan 6, 2009 376
Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation. Jan 2, 2009 108
Molecular diagnostics clinical laboratory science course design: making it real. Rohde, Rodney E.; Falleur, David M.; Kostroun, Phil Jan 1, 2009 4152
Curing genetic diseases may not be as simple as expected. Dec 26, 2008 340
Scientists compile first 'molecular manual' for 100s of inherited diseases. Dec 18, 2008 369
The genetics of primary congenital glaucoma. Armstrong, Richard A. Report Dec 12, 2008 3084
Scientists unveil genes vital to vital to adult heart function. Dec 3, 2008 308
Generation next. Dec 1, 2008 670
Hereditary diseases are threatening in-bred families, warn doctors (Local). Aug 11, 2008 702
Cystic fibrosis: newborn screening in America. Kleven, Daniel T.; McCudden, Christopher R.; Willis, Monte S. Cover story Jul 1, 2008 5381
Near-complete tracheal ring deformity: a case report. Somers, Melissa L.; Suskind, Dana L. Case study Jul 1, 2008 1453
Dying for a pair of lungs; DONOR CARD CAMPAIGNER SHELLEY ENJOYS A MAKEOVER AFTER TRANSPLANT PROVES A SUCCESS. Jun 19, 2008 237
Service to recall the full life she enjoyed; Mum killed by genetic condition aged just 21. Jun 9, 2008 331
Genetic disorders and malaria in Indo-China region. Wiwanitkit, Viroj Report Jun 1, 2008 4018
Undetected heart problem a killer; DEADLY GENETIC DISEASE STRUCK DOWN KEEN FOOTBALLER AT JUST 26. May 9, 2008 424
Facts of disorder. May 7, 2008 111
Tragedy of a cruel hereditary disease. Apr 10, 2008 177
Archbishop hits out at embryo research. Mar 24, 2008 315
Changes in Adult Stem Cells May Underlie Rare Genetic Disease Associated with Accelerated Aging. Mar 3, 2008 106
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Palladino, Andrew A.; Bennett, Michael J.; Stanley, Charles A. Feb 1, 2008 5930
TV PICKS OF THE WEEK. Jan 19, 2008 577
Target obesity in kids with genetic syndromes: reserve medications for those with genetic conditions such as familial hypercholesterolemia. Bates, Betsy Jan 15, 2008 699
CYSTIC FIBROSIS DEATH TOLL HITS 14-YEAR HIGH; CARE SERVICES SLAMMED. Jan 12, 2008 300
Once Carrie was gone we were lost at first. But I knew I just had to carry on. Jan 5, 2008 382
Wales: Could I inherit disease that killed my mum? Actress on emotional journey in programme. Jan 4, 2008 576
Congenital familial bilateral branchial tracts: a rare case. Vent, Julia; Grier, Candace G.; Leopold, Donald A.; Heywood, Barbara B. Medical condition overview Jan 1, 2008 1836
Skin cells used to fight disease. Dec 7, 2007 200
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Shen, Yiping; Miller, David T.; Cheung, Sau Wai; Lip, Va; Sheng, Xiaoming; Tomaszewicz, Keith; Shao, Dec 1, 2007 5053
INCURABLE DISEASE. Sep 13, 2007 135
Cytomolecular approaches in congenital heart disease: a review. Gowde, Harshavardhan; Patel, Z.M. Jul 1, 2007 2652
Generation next. Jun 12, 2007 670
Genetics and skin disease. Wood, E.J. May 1, 2007 772
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5t allele in the CFTR gene. Mantovani, Vilma; Garagnani, Paolo; Selva, Paola; Rossi, Cesare; Ferrari, Simona; Cenci, Marinella; Mar 1, 2007 2289
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson, Marina L.; Warburton, Trent; Nelis, Eva; Brewer, Megan; Polly, Patsie; De Jonghe, Peter; Clinical report Feb 1, 2007 2248
Mucus clogs lungs. Dec 1, 2006 168
The facts. Dec 1, 2006 81
BROWN BABY AGONY; Little Fraser, 4 months, has cystic fibrosis. Nov 30, 2006 288
Embryo screening hope. Jun 20, 2006 384
Screening advance for genetic disease. Jun 20, 2006 462
'I don't think about the future, I just live day to day and I'm happy...'. May 7, 2006 444
Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. Campagna, Filomena; Fioretti, Francesca; Burattin, Marco; Romeo, Stefano; Sentinelli, Federica; Bifo Jul 1, 2005 1962
Rapid detection of cystic fibrosis transmembrane conductance regulator gene IVS8 5T variant by real-time PCR. Kamory, Eniko; Csokay, Bela; Hollo, Zsolt Oct 1, 2004 2006
Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Marsden, Deborah; Larson, Cecilia A. Mar 1, 2004 1552
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Garcia-Barcelo, Merce; Sham, Mai-Har; Lee, Wing-Shan; Lui, Vincent Chi-Hang; Chen, Benedict Ling-Sze Jan 1, 2004 5733
Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Sebastian, Siby; Spitzer, Silvia G.; Grosso, Leonard E.; Amos, Jean; Schaefer, Frederick V.; Lyon, E Jan 1, 2004 2578
Rapid screening of multiple [beta]-globin gene mutations by real-time PCR on the lightcycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Vrettou, Christina; Traeger-Synodinos, Joanne; Tzetis, Maria; Malamis, George; Kanavakis, Emmanuel May 1, 2003 4349
Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Langmann, Thomas; Mauerer, Richard; Zahn, Alexandra; Moehle, Christoph; Probst, Mario; Stremmel, Wol Feb 1, 2003 5463
Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Wang, XinJing; Myers, Angela; Saiki, Randall K.; Cutting, Garry R. Jul 1, 2002 1801
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Krone, Nils; Braun, Andreas; Weinert, Stefanie; Peter, Michael; Roscher, Adelbert A.; Partsch, Carl- Jun 1, 2002 4987
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Galliano, Monica; Campagnoli, Monica; Rossi, Antonio; von Konig, Carl Heinz Wirsing; Lyon, Andrew W. Jun 1, 2002 3101
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia. Barnier, Anne; Dupre, Thierry; Cuer, Maryvonne; Vuillaumier-Barrot, Sandrine; Durand, Genevieve; Set Jun 1, 2002 2313
Prenatal exclusion of recessively inherited disorders: should maternal plasma analysis precede invasive techniques? Bianchi, Diana W. May 1, 2002 1730
Laboratory investigation of thrombophilia. Tripodi, Armando; Mannucci, Pier Mannuccio Sep 1, 2001 8513
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Jensen, Ulrich Glumer; Brandt, Niels Jacob; Christensen, Ernst; Skovby, Flemming; Norgaard-Pedersen, Report Aug 1, 2001 6680
Hereditary hemochromatosis since discovery of the HFE gene. Lyon, Elaine; Frank, Elizabeth L. Jul 1, 2001 6645
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Bonafe, Luisa; Thony, Beat; Leimbacher, Walter; Kierat, Lucja; Blau, Nenad Report Mar 1, 2001 6854
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern. Dupre, Thierry; Cuer, Maryvonne; Barrot, Sandrine; Barnier, Anne; Cormier-Daire, Valerie; Munnich, A Jan 1, 2001 1389
Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Magera, Mark J.; Helgeson, Janice K.; Matern, Dietrich; Rinaldo, Piero Nov 1, 2000 3666
Coagulation and bleeding disorders: review and update. Triplett, Douglas A. Aug 1, 2000 6946
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring. Durand, Genevieve; Seta, Nathalie Jun 1, 2000 6490
Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays. Romppanen, Eeva-Liisa; Mononen, Ilkka Jun 1, 2000 4862
Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism. Adam, Tomas; Friedecky, David; Fairbanks, Lynette D.; Sevcik, Juraj; Bartak, Petr Dec 1, 1999 3686
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. Romstad, Anne; Guldberg, Per; Blau, Nenad; Guttler, Flemming Dec 1, 1999 4985
Clinically useful information provided by the flow cytometric immunophenotyping of hematological malignancies: current status and future directions. Orfao, Alberto; Schmitz, Gerd; Brando, Bruno; Ruiz-Arguelles, Alejandro; Basso, Giuseppe; Braylan, R Oct 1, 1999 8699
Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular diagnostics. Friedman, Kenneth J.; Silverman, Lawrence M. Jul 1, 1999 2647
Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia. Jiddou, Renee R.; Wei, Wan-li; Sane, Kumud S.; Killeen, Anthony A. May 1, 1999 3359
CYPs, SNPs, and molecular diagnosis in the postgenomic era. Vilain, Eric Dec 1, 1998 1402
Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles. Killeen, Anthony A.; Jiddou, Renee R.; Sane, Kumud S. Dec 1, 1998 3638
Influence of methodology on the detection and diagnosis of congenital analbuminemia. Lyon, Andrew W.; Meinert, Paul; Bruce, Garth A.; Laxdal, Victor A.; Salkie, Mark L. Nov 1, 1998 2754
Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency. Krone, Nils; Roscher, Adelbert Anton; Schwarz, Hans Peter; Braun, Andreas Oct 1, 1998 4957
Rapid capillary zone electrophoresis in isoelectric histidine buffer: high resolution of the poly-T tract allelic variants in intron 8 of the CFTR gene. Gelfi, Cecilia; Perego, Marilena; Righetti, Pier Giorgio; Cainarca, Silvia; Firpo, Stefania; Ferrari May 1, 1998 5410
Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry. Heinonen, Pia; Iitia, Antti; Torresani, Toni; Lovgren, Timo Jul 1, 1997 6320

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