Results 241 to 250 of about 3,396,540 (313)

Newborn Screening for Cystic Fibrosis and Its Incidence at a Tertiary Care Center in Saudi Arabia: A Retrospective Study. [PDF]

Cureus
Kelabi HM, Alharbi FJ, Alharbi A, Alshamrani AS, Alqwaiee M, Alenazi AM, Alsaban AS, Baqias KA.   +7 more
europepmc   +1 more source

The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Genetics in Medicine, 2019
D. Kariyawasam, J. S. Russell, V. Wiley, I. Alexander, M. Farrar   +4 more
semanticscholar   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Newborn Screening-A Worldwide Endeavour to Protect. [PDF]

Int J Neonatal Screen
Bonham JR, Webster D, Gaviglio A, Khan AH, Howell RR, Schielen PCJI.   +5 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong. [PDF]

Int J Neonatal Screen
Mak CM, Wu HY, Wong AY, Song FE, Chan TCH, Fung CW, Wong SN, Hau EWL, Yeung MCW.   +8 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Current Status of Newborn Screening in Southeastern and Central Europe. [PDF]

Int J Neonatal Screen
Požun N, Perko D, Anastasovska V, Barić I, Baša M, Battelino T, Bilandžija I, Brincat I, Brkušanin M, Djordević M, Dimova I, Drole Torkar A, Fumić K, Gladun S, Girginoudis P, Szatmári I, Kavečan I, Katanić J, Kotori V, Marić N, Martić J, Manđarelo O, Milenković T, Mlinarič M, Moldovanu F, Nanu M, Monostori P, Modeva I, Opančina B, Platis D, Raičević M, Remec ŽI, Repič Lampret B, Savov A, Skouma A, Sovtić A, Stoeva I, Toromanović A, Trampuž D, Usurelu N, Višekruna J, Vogazianos M, Zeyda M, Žerjav Tanšek M, Grošelj U.   +44 more
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source