Results 241 to 250 of about 282,476 (297)

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

Impact of pregnant mothers' previous COVID-19 infection and vaccination on newborns' serological profiling. [PDF]

Front Immunol
Masry A, Bayoumi MAA, Chandra P, Abukhadijah HJ, Olukade T, Abdelhady I, Thazhe S, Paramban R, Sudarsanan A, Abraham J, Abugubba M, Al-Matar Y, Al-Shanwar MS, Nasrallah GK, Joseph J, Sajor C, Joy S, George S, Al-Dewik N, Al-Qubaisi MA.   +19 more
europepmc   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Epidemiological and clinical features of neonatal parainfluenza virus infection: a retrospective study. [PDF]

Transl Pediatr
Wang Y, Yu T, Li Q, Lu L.
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

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program. [PDF]

Nat Med
Cope HL, Jalazo ER, Berg JS, Sullivan JA, Kucera KS, Shone SM, Frawley HE, Gwaltney AY, Forsythe AN, Migliore BA, Wright B, Moultrie RR, Milko LV, Zimmerman RS, Kruszka P, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Guenzel AJ, McWalter K, Hruska KS, Bailey DB, Wheeler AC, Raspa M, Powell CM, Peay HL, Early Check Program.   +28 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy. [PDF]

Eur J Pediatr
Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M.   +14 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Effectiveness of nurse-led combined modalities on the physiological parameters of preterm neonates admitted to neonatal intensive care units at a selected tertiary care hospital. [PDF]

J Educ Health Promot
Dsouza SN, Aranha PR, Mithun HK, Nayak KP, Shenoy S.   +4 more
europepmc   +1 more source