| 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 |
| Baby genome sequencing for sale in China: Chinese parents can now decode the genomes of their healthy newborns, revealing disease risks as well as the likelihood of physical traits like male-pattern baldness. |
Regalado, Antonio |
|
Sep 1, 2017 |
907 |
| 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 |
| Feasibility of Metatranscriptome Analysis from Infant Gut Microbiota: Adaptation to Solid Foods Results in Increased Activity of Firmicutes at Six Months. |
Hugenholtz, Floor; Ritari, Jarmo; Nylund, Lotta; Davids, Mark; Satokari, Reetta; de Vos, Willem M. |
Report |
Jan 1, 2017 |
5216 |
| 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 |
| Newborn gene research underway. |
Anderson, Jane |
Brief article |
Sep 15, 2013 |
146 |
| Halting a genetic threat: "we envision universal newborn screening and early identification of the disorder," says Ann Moser of ALD. "It was my husband's dream to have this neonatal screening introduced and implemented worldwide." Making that dream a reality is crucial and holds great promise and hope for those who are genetically liable to develop ALD. |
Purvis, Meredith |
|
Aug 1, 2013 |
411 |
| Newborn screening by sequence and the road ahead. |
Sondheimer, Neal |
Editorial |
Jul 1, 2013 |
1933 |
| 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 |
| Prenatal brain development may influence vulnerability to AD. |
|
Brief article |
Mar 1, 2013 |
130 |
| Hints of potential ills in infant brains: features characteristic of adult-onset diseases seen at birth. |
Sanders, Laura |
|
Feb 9, 2013 |
374 |
| 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 |
| Faecal bifidobacteria in Indian neonates & the effect of asymptomatic rotavirus infection during the first month of life. |
Balamurugan, Ramadass; Magne, Fabien; Balakrishnan, Divya; Suau, Antonia; Ramani, Sasirekha; Kang, G |
Report |
Dec 1, 2010 |
4371 |
| Ethical issues in predictive pediatric genetic testing. |
Holaday, Bonnie |
Report |
Oct 1, 2010 |
2674 |
| Newborn screening resources. |
Feero, Greg; Howell, R. Rodney |
|
Apr 1, 2009 |
685 |
| Thou good and faithful servant. |
Schneider, Carl E. |
|
Jan 1, 2009 |
1749 |
| Newborn Screening. |
Feero, Greg; Howell, Rodney R. |
|
Oct 1, 2008 |
717 |
| Expanded newborn screening for genetic and metabolic disorders: modeling costs and outcomes. |
Hubbard, Heddy Bishop |
|
Nov 1, 2007 |
5862 |
| Sulfonylureas can replace insulin use in permanent neonatal diabetes. |
Johnson, Kate |
|
Nov 1, 2006 |
738 |
| Paraoxonase polymorphisms, haplotypes, and enzyme activity in Latino mothers and newborns. |
Eskenazi, Brenda |
|
Jul 1, 2006 |
8458 |
| Newborn screening for lysosomal storage disorders. |
Millington, David S. |
|
May 1, 2005 |
1982 |
| Newborn screening by tandem mass spectrometry: gaining experience. |
Sweetman, Lawrence |
|
Nov 1, 2001 |
1921 |
| 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 |
| Newborn Exams May Soon Include DNA Screening. |
KIRN, TIMOTHY F. |
Statistical Data Included |
Jun 1, 2000 |
382 |
| Successful newborn sickle cell trait counseling program using health department nurses. |
Day, Sara W.; Brunson, Gloria E.; Wang, Winfred C. |
|
Nov 1, 1997 |
2336 |
