Results 241 to 250 of about 2,257,975 (340)

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

Target Diseases for Neonatal Screening in Germany. [PDF]

Dtsch Arztebl Int, 2022
Spiekerkoetter U, Krude H.
europepmc   +1 more source

Is it Time to Begin Prenatal/Neonatal Screening for Autism Risk? [PDF]

, 2019
Sarah Crawford
openalex   +1 more source

Supplementary Material for: Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience

, 2022
Marie Lind‐Holst, Marie Bækvad‐Hansen, Agnethe Berglund, Cohen A.S., Lars Melgaard, Kristin Skogstrand, Morten Dunø, Main K.M., Haji Abdulbaghy M, Gravholt C.H., Dorte Hansen   +10 more
openalex   +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

Cognitive outcome of 458 children over 25 years of neonatal screening for congenital hypothyroidism. [PDF]

J Pediatr (Rio J), 2023
Pelaez JM, Rojas-Ramos JCR, Domingos MT, de Lima MR, Kraemer GC, Cardoso-Demartini AA, Pereira RM, de Lacerda L, Nesi-França S.   +8 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

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 2014
H. Alhosani, M. Salah, H. Osman, Farag Hm, L. El-Assiouty, D. Saade, J. Hertecant   +6 more
semanticscholar   +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

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source