Results 251 to 260 of about 6,042,146 (340)

Neonatal listeriosis: risk factors, clinical characteristics and outcome of infants born in a tertiary hospital in singapore over 15 years [PDF]

, 2017

openalex   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

The Pathophysiology of Wharton's Jelly and Its Impact on Fetal and Neonatal Outcomes: A Comprehensive Literature Review. [PDF]

Med Sci (Basel)
Butureanu TA.
europepmc   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Hypoglycemia in pregnancy: maternal characteristics and neonatal outcomes from oral glucose tolerance tests. [PDF]

BMC Pregnancy Childbirth
Ng VWY, Law MC, Chow WS, Ko WWK, Wong CF, Hui PW.   +5 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Continuous glucose monitoring in early gestational diabetes improves maternal and neonatal outcomes-The Steady Sugar trial. [PDF]

Diabetes Obes Metab
Elkind-Hirsch K, Armatta M, Griffen C, Welsh JB, Veillon E, Guedry S, Ballard J, Crawford MA, Monroy A, Singh H, Cappon G.   +10 more
europepmc   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Advanced maternal age increases the risk of adverse neonatal outcomes: a comparative study in Ethiopia. [PDF]

BMC Pregnancy Childbirth
Abebe YM, Deribe L, Fantahun A, Beyene BN, Megule SM, Shiferaw WG, Adugna KF, Tessema LW, Getu AA, Kassahun EA, Alemayehu BA, Nega AT, Azene Z, Bante SA, Awoke AM, Chekole FA, Balcha WF.   +16 more
europepmc   +1 more source

Mother’s education and the risk of several neonatal outcomes: an evidence from an Italian population-based study [PDF]

, 2017
Anna Cantarutti, Matteo Franchi, Matteo Monzio Compagnoni, Luca Merlino, Giovanni Corrao   +4 more
openalex   +1 more source