Results 121 to 130 of about 241,099 (281)

Congenital Malformation Prevalence in Cluj District between 2003-2007 [PDF]

Applied Medical Informatics, 2009
Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations
Ştefan I. ŢIGAN, Tudor MÎRZA, Rodica RADU, Anamaria MOLNAR   +3 more
doaj  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21. [PDF]

Clin Pathol, 2022
Ward JD, Sharma MS, Pizzuto MF, Moylan VJ, Askin FB, Kaufman DG.   +5 more
europepmc   +1 more source

Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

, 2008
With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs).
Rakhshandehroo, M., Ottenkamp, J., Steegers, Eric A. P., Smedts, Dineke, Steegers-Theunissen, Régine P. M., Verkleij-Hagoort, AC, Steegers, E.A.P., Steegers - Theunissen, Régine; id_orcid, Ottenkamp, J, Steegers, Eric, Steegers-Theunissen, R.P.M., Rakhshandehroo, M, de Vries, J.H.M., Ottenkamp, Jaap, Smedts, Huberdina P. M., Verkleij-Hagoort, Anna C., de Vries, Jeanne H. M., Rakhshandehroo, Maryam, Vries, J.H.M., de, de Vries, JHM, Verkleij-Hagoort, A.C., Smedts, H.P.M., Steegers - Theunissen, Régine   +22 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? [PDF]

Eur J Hum Genet, 2022
Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C.   +35 more
europepmc   +1 more source

Surveillance for emerging threats to pregnant women and infants : data for action [PDF]

Presented on Tuesday, September 18, 2018.Emerging health threats are a concern for everyone, yet pregnant women and infants are particularly vulnerable. For example, infection with the Zika virus or having untreated syphilis during pregnancy can cause a ...

core  

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Congenital Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1924
openaire   +2 more sources

Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities. [PDF]

Facts Views Vis Obgyn, 2022
Küçük T, Ata B.
europepmc   +1 more source