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1-62 out of 62 article(s)
Title Author Type Date Words
United States : Neurocrine Biosciences Reports Positive Interim Results from Phase II Study of NBI-74788 in Adults with Classic Congenital Adrenal Hyperplasia. Mar 13, 2019 493
Editorial: Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey. Bereket, Abdullah Editorial Mar 1, 2019 2312
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants. Guran, Tulay; Tezel, Basak; Gurbuz, Fatih; Eklioglu, Beray Selver; Hatipoglu, Nihal; Kara, Cengiz; S Report Mar 1, 2019 7853
Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia. Metwalley, Kotb Abbass; Farghaly, Hekma Saad; Abdelhamid, Abdelrahman Report Mar 1, 2019 6600
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency. Dorr, Helmuth G.; Penger, Theresa; Albrecht, Andrea; Marx, Michaela; Volkl, Thomas M.K. Report Mar 1, 2019 2969
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations. Kardelen, Asli Derya; Toksoy, Guven; Bas, Firdevs; Abali, Zehra Yavas; Gencay, Genco; Poyrazoglu, Su Report Sep 1, 2018 6718
Female pseudohermaphroditism: Congenital adrenal hyperplasia presenting with diffuse hyperpigmentation. Jun 30, 2018 1489
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. Ganie, Y.; Aldous, C.; Balakrishna, Y.; Wiersma, R. Report Feb 1, 2018 5564
Spruce Biosciences wins EMA orphan drug designation for SPR001 for congenital adrenal hyperplasia. Jan 8, 2018 179
Spruce Biosciences wins EMA orphan drug designation for SPR001 for congenital adrenal hyperplasia. Jan 8, 2018 175
US FDA Grants Spruce Biosciences Orphan Drug Designation for Treatment of Congenital Adrenal Hyperplasia. Dec 6, 2017 172
FDA Grants Orphan Drug Designation to Millendo Therapeutics for ATR-101 in Classic Congenital Adrenal Hyperplasia. Nov 9, 2017 299
Congenital adrenal hyperplasia secondary to 3-beta hydroxysteroid dehydrogenase deficiency. Penny, Scott; Gridley, Daniel; Young, Jason Report Nov 1, 2017 530
Which way to go? Fleming, Louise Sep 1, 2017 963
ASSOCIATION OF DEVELOPMENTAL DELAY, CONGENITAL ADRENAL HYPOPLASIA, DUCHENNE MUSCULAR DYSTROPHY AND GLYCEROL KINASE DEFICIENCY: A RARE Xp21 CONTIGUOUS GENE DELETION SYNDROME. Altundag, Engin; Kara, Cengiz; Sanri, Aslihan; Albayrak, Hatice Mutlu; Yalcin, Hatice Yelda; Ogur, G Case study Jun 1, 2017 328
Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age. Saygili, Emre Sedar; Ozturk, Feyza Yener; Sen, Esra Cil; Erol, Rumeysa Selvinaz; Kesim, Belgin Erogl Clinical report Jun 1, 2017 323
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
Non-Classical Congenital Adrenal Hyperplasia in Childhood. Kurtoglu, Selim; Hatipoglu, Nihal Report Mar 1, 2017 5637
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
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum. Wasserman, Meredith; Mulvihill, Erin M.; Ganan-Soto, Angela; Uysal, Serife; Quintos, Jose Bernardo Clinical report Jan 1, 2017 2760
A young man with bilateral testicular pain and swelling. Akter, Roushon Ara; Busaidi, Noor Al; Musalhi, Hilal Al; Rajaratnam, Simon Nov 1, 2016 262
Congenital adrenal hyperplasia in male and female siblings leading to precocious puberty. Manjula, Moturi Ratna; Nirmala, Cherukuri; Bharathi, A.; Sanjana, Nethagani Case study Jul 4, 2016 949
Congenital Adrenal Hyperplasia: Consensus Guidelines and Beyond. Geffner, Mitchell E. Report Jun 1, 2016 858
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination. May 31, 2016 2042
Congenital adrenal hyperplasia and schmid metaphyseal chondrodysplasia in a child. Khorasani, Efat; Vakili, Rahim Jan 1, 2016 1565
Congenital Adrenal Hyperplasia (Adrenogenital Syndrome) Global Clinical Trials Review, H2, 2015. Nov 23, 2015 482
Kits for neonatal screening of congenital adrenal hyperplasia. Oct 22, 2015 141
Kits for neonatal screening of congenital adrenal hyperplasia. Sep 26, 2015 139
Clinical Features of an Unrecognized 21-hydroxylase Deficiency Woman During Controlled Ovarian Hyperstimulation. Yang, Rui; Li, Hong-Zhen; Qiao, Jie Report Sep 5, 2015 935
Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia. Aug 31, 2015 1645
A novel mutation causing 17-[beta]-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature. Sinani, Aisha Al-; Mula-Abed, Waad-Allah; Kindi, Manal Al-; Kusaibi, Ghariba Al-; Azkawi, Hanan Al-; Clinical report Mar 1, 2015 3555
Neurocrine Biosciences wins US FDA orphan drug status for NBI-77860 for congenital adrenal hyperplasia. Jan 19, 2015 196
Neurocrine Biosciences wins US FDA orphan drug status for NBI-77860 for congenital adrenal hyperplasia. Jan 19, 2015 192
Congenital adrenal hyperplasia with cholestatic jaundice. Jan 31, 2014 1965
Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman. Mula-Abed, Waad-Allah S.; Pambinezhuth, Fathima B.; Kindi, Manal K. Al-; Busaidi, Noor B. Al-; Musla Report Jan 1, 2014 3359
Sexual well-being in adult male patients with congenital adrenal hyperplasia. Dudzinska, Bogna; Leubner, Jonas; Ventz, Manfred; Quinkler, Marcus Report Jan 1, 2014 6066
Congenital adrenal hyperplasia: presentation in a male infant. Sunil, B.; Sahana, G.; Adarsh, E.; Purushotham, D.R.; Rajanish, K.V. Clinical report Nov 25, 2013 1098
Classic congenital adrenal hyperplasia: A delayed presentation. Feb 28, 2013 2291
Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia. Canturk, Cumhur; Baade, Ulrike; Salazar, Ramona; Storm, Niels; Portner, Ralf; Hoppner, Wolfgang Mar 1, 2011 3863
Congenital adrenal hyperplasia with polycystic ovarian disease: A rare cause of hirsutism. Report Sep 30, 2010 1463
CONGENITAL ADRENAL HYPERPLASIA (CAH): PRESENTATION WITH AMBIGUOUS GENITALIA. Report Sep 30, 2010 1193
Two cousins with 17-alpha hydroxylase deficiency/ 17 alfa hidroksilaz eksikligi Olan Akraba iki Olgu. Ozsan, Muge; Akarsu, Ersin; Aktaran, Sebnem Case study Sep 1, 2010 1813
Bioethics forum: www.bioethicsforum.org. Report Mar 1, 2010 177
Adrenal rest tumours in congenital adrenal hyperplasia. Zollner, Ekkehard W.; Pitcher, Richard Clinical report Dec 1, 2007 612
Patients surgically assigned as women may face depression. Zoler, Mitchel L. Jul 1, 2007 472
Raising a child with special needs. Brunk, Dough May 15, 2005 1612
Raising a child with special needs. Brunk, Doug May 15, 2005 1650
Raising a child with special needs. Brunk, Doug May 15, 2005 1370
Raising a child with special needs. Brunk, Doug May 1, 2005 1717
Increased risk of low BMD in congenital adrenal hyperplasia. Tucker, Miriam E. Mar 1, 2005 438
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 2I-hydroxylase deficiency. Kosel, Siegfried; Burggraf, Siegfried; Fingerhut, Ralph; Dorr, Helmut G.; Roscher, Adelbert A.; Olge Clinical report Feb 1, 2005 3894
Congenital adrenal hyperplasia Tx raises risk of bone loss. Tucker, Miriam E. Nov 1, 2004 457
Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia. Lee, Hsien-Hsiung; Lee, Yann-Jinn; Chan, Peter; Lin, Ching-Yu Jun 1, 2004 2312
Emerging role for tandem mass spectrometry in detecting congenital adrenal hyperplasia. Marsden, Deborah; Larson, Cecilia A. Mar 1, 2004 1552
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Lacey, Jean M.; Minutti, Carla Z.; Magera, Mark J.; Tauscher, Angela L.; Casetta, Bruno; McCann, Mar Mar 1, 2004 3333
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
Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Chiu, Rossa W.K.; Lau, Tze K.; Cheung, Pik T.; Gong, Zhi Q.; Leung, Tse N.; Lo, Y.M. Dennis May 1, 2002 2300
CARES Foundation, Inc. (organizational spotlight). Leight, Kelly R. Mar 1, 2002 1677
Monitoring of congenital adrenal hyperplasia by microbore HPLC-electrospray ionization tandem mass spectrometry of dried blood spots. Lai, Chien-Chen; Tsai, Chang-Hai; Tsai, Fuu-Jen; Wu, Jer-Yuarn; Lin, Wei-De; Lee, Cheng-Chun Feb 1, 2002 2183
Newborn Exams May Soon Include DNA Screening. KIRN, TIMOTHY F. Statistical Data Included Jun 1, 2000 382
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

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