Results 341 to 350 of about 1,221,818 (402)

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

HLA class II-restricted T cell epitopes in public neoantigens of ESR1 and PIK3CA in breast cancer. [PDF]

BMC Cancer
Ando Y, Miyadera H, Bando H, Hashimoto S, Noguchi E, Hara H.   +5 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

A rapid ecologic analysis, confirmed by a case-control study, identifies class I HLA alleles correlated to the risk of COVID-19. [PDF]

J Transl Med
Correale P, Baglio G, Parrella R, Saladino RE, Cuomo N, Scarano F, Francone M, Cuzzola M, Foti G, Mutti L, Pentimalli F, Giordano A.   +11 more
europepmc   +1 more source

Changes in allele frequency [PDF]

, 2012
Liu, Huiming, Berg, Peer, Sørensen, Anders Christian, Norberg, Elise   +3 more
openaire   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Demographic History, Genetic Load, and the Efficacy of Selection in the Globally Invasive Mosquito Aedes aegypti. [PDF]

Genome Biol Evol
Kent TV, Schrider DR, Matute DR.
europepmc   +1 more source

Potato tuberization under long-day conditions: Genetic effects of 6 CYCLING DOF FACTOR1 alleles. [PDF]

Plant Physiol
Ma L, Li H, Jiang H, Zhu Y, Zhang Z, Li D, Zhu G, Sui Q, Jian Y, Qi J, Zhai Z, Zhang C.   +11 more
europepmc   +1 more source

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease. [PDF]

IUBMB Life
Mahmood M, Little E, Girard N, Wu F, Samuels T, Heinemann IU, Reynolds NM.   +6 more
europepmc   +1 more source