Results 261 to 270 of about 3,396,540 (313)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies. [PDF]

J Hum Immun
Duintjer AJ, Blom M, Bredius RGM, Pico-Knijnenburg I, Heuperman A, Hodemaekers H, Imholz S, Dollé MET, Brandsema RB, van de Corput L, Henriet SS, Kuijpers TW, van Montfrans JM, Vermont CL, van Well GTJ, Zonneveld-Huijssoon E, Voorhoeve E, van Gijn ME, van der Burg M.   +18 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Improving the Throughput and Specificity for Small-Molecule Analysis During First-Tier Mass Spectrometry-Based Newborn Screening. [PDF]

Metabolites
Isenberg SL, Pickens CA, Lee R, Cuthbert C, Petritis K.   +4 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Benchmarking genetic birth prevalence estimates against newborn screening data. [PDF]

Am J Hum Genet
Sierant MC, Knoblauch N, Witt E, Gaffney D, Pulit SL, Wuster A.   +5 more
europepmc   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases. [PDF]

Int J Neonatal Screen
Meijer NWF, Koop K, Maase RE, Hall PL, Visser WF, Oussoren E, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM.   +8 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation. [PDF]

Int J Neonatal Screen
Nani D, Mendonça RH, da Graça FF, Pinheiro VRP, Carneireiro M, Farah BG, França MC, Gabetta CS, Polido G, Iwabe C, Monfardini F, Fonseca ATQSM, Breinis P, Grindler CM, Andrade CEF, Mauro AMMF, Zanoteli E, Marques W, Maciel LMZ, Oliveira ASB, Morita MDPA, Yang E, Tavares VLR.   +22 more
europepmc   +1 more source