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Browse Neonatal diseases topic

Genetic aspects subtopic

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1-29 out of 29 article(s)
Title Author Type Date Words
A targeted gene capture next-generation sequencing panel for genetic screening of newborns. Peng Qi; Liu Guojun; Zhu Pengyuan; Wu Chunqiu; He Xiaoguang; Li Wenrui; Rao Chunbao; Li Siping; Lu X Report Oct 31, 2020 3701
Relation of Endothelin-1 to Abnormal Umbilical Doppler Waveform Studies In Pregnancies Complicated By IDDM and Its Relation to the Neonatal Outcome. Youssef, Hala A.; Armaneous, Ayman F.; Hasan, Hatem M.; Youness, Eman R.; Abouelnaga, Marwa W. Report Sep 1, 2020 2684
Neonatal Bell's Palsy and Possible Correlation with Human Leukocyte Antigens. Mendalawi, Mahmood Dhahir Al- Clinical report Jan 1, 2019 1140
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development. Eser, Metin; Ayaz, Akif Case study Jun 1, 2018 1773
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. Evliyaoglu, Olcay; Ercan, Oya; Ataoglu, Emel; Zubarioglu, Umit; Ozcabi, Bahar; Dagdeviren, Aydilek; Report Jun 1, 2018 5005
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. Gole, Evangelia; Oikonomou, Stavroula; Ellard, Sian; De Franco, Elisa; Karavanaki, Kyriaki Case study Jun 1, 2018 3153
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. Gabbay, Monica; Ellard, Sian; de Franco, Elisa; Moises, Regina S. Case study Sep 1, 2017 2209
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
A New Mutation in an Infant with Hypercalcemia. Gunes, Sevinc Odabasi; Ergur, Ayca Torel Brief article Jun 1, 2017 279
A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene. Yildiz, Melek; Gezdirici, Alper; Aydin, Banu; Onal, Hasan; Akgun, Abdurrahman; Dogan, Beyza Belde; A Case study Jun 1, 2017 300
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types. Gunes, Nilay; Erkan, Tulay; Kutlu, Tufan; Onay, Huseyin; Ozkinay, Ferda; Tuysuz, Beyhan Case study Jun 1, 2017 315
Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Mullerian Hormone Receptor Mutation. Korkmaz, Ozlem; Ozen, Samim; Ozcan, Nurhan; Bayindir, Petek; Sen, Sait; Onay, Huseyin; Goksen, Damla Case study Jun 1, 2017 1999
Evaluation of procalcitonin as a marker in the diagnosis of neonatal sepsis. Purushothaman, Gayathri; Balakrishnan, Umasudhan; Silluvaimuthu, Ashok; Rangaraj, Radhika Arumugam; Report Apr 3, 2017 2950
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Whittington, Julie R.; Poole, Aaron T.; Dutta, Eryn H.; Munn, Mary B. Clinical report Jan 1, 2017 1124
Neuronal Damage Induced by Perinatal Asphyxia Is Attenuated by Postinjury Glutaredoxin-2 Administration. Romero, Juan Ignacio; Holubiec, Mariana Ines; Tornatore, Tamara Logica; Riviere, Stephanie; Hanschma Report Jan 1, 2017 10688
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates. Korkut, Sabriye; Bastug, Osman; Raygada, Margarita; Hatipoglu, Nihal; Kurtoglu, Selim; Kendirci, Mus Report Dec 1, 2016 1872
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
Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia. Papadopoulou, Anna; Gole, Evangelia; Melachroinou, Katerina; Meristoudis, Christos; Siahanidou, Tani Case study Sep 1, 2016 4020
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. Nur, Banu Guzel; Celmeli, Gamze; Manguoglu, Esra; Soyucen, Erdogan; Bircan, Iffet; Mihci, Ercan Case study Sep 1, 2016 2509
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. Khan, Nusrat; Dandan, Waleed; Al Hassani, Noura; Hadi, Suha Case study Jun 1, 2016 2672
A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report. Altincik, Ayca; Schlingmann, Karl Peter; Tosun, Mahya Sultan Case study Mar 1, 2016 2503
Newborn screening by whole-genome sequencing: ready for prime time? Fleischer, Julie A.; Lockwood, Christina M. Report Sep 1, 2014 828
Genotypic study documents divergence in the pathogenesis of bloodstream infection related central venous catheters in neonates. Britoa, Cristiane Silveira; Ribas, Rosineide Marques; Resende, Daiane Silva; de Brito, Denise Von Do Report Jul 1, 2014 4740
Frequecy of G6PD deficiency in neonatal hyperbilirubinemia. Report Jun 30, 2014 2265
Evaluation of gene SCNN1A responsible for the synthesis of alpha subunit of epithelial sodium channel in transient tachypnea of newborn/Yenidoganin gecici takipnesinde epiteliyal sodyum kanali alfa alt biriminin sentezinden sorumlu SCNN1A geninin degerlendirilmesi. Oztekin, Osman; Akyol, Mahmut; Kalay, Salih; Tezel, Gonul; Akcakus, Mustafa; Oygur, Nihal Report Mar 1, 2013 3139
Immunophenotyping of lymphocyte subpopulations and pre-inflammatory mediators in neonatal sepsis. Zakaria, Mostafa; Rafaat, Mona Report Oct 1, 2012 3481
Neonatal diabetes mellitus/ Yenidoganda diyabetes mellitus. Aydin, Mustafa; Zenciroglu, Aysegul; Aycan, Zehra; Cetinkaya, Semra; Hakan, Nilay; Okumus, Nurullah; Sep 1, 2012 1899
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. Singh, Dinesh; Akingbola, Olugbenga; Dutta, Meenakshi; Narumanchi, Tarachandra Case study Mar 1, 2012 1906
Extended-spectrum [beta]-lactamase--producing Escherichia coli in neonatal care unit. Johnson, James R. Report Jun 1, 2011 755

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