Results 321 to 330 of about 1,221,818 (402)

A computational HLA allele-typing protocol to de-noise and leverage nanopore amplicon data. [PDF]

BMC Genomics
Siddiqui J, Sinha R, Grantham J, LaCombe R, Alonzo JR, Cowden S, Kleiboeker S.   +6 more
europepmc   +1 more source

THE SERIAL TRANSPLANTATION OF HAEMATOPOIETIC TISSUE IN MICE WITH THE SAME H-2 ALLELE

, 1966
Ann M. Dresser, D W Dressser
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

β-Lactamase diversity in <i>Pseudomonas aeruginosa</i>. [PDF]

Antimicrob Agents Chemother
Mack AR, Hujer AM, Mojica MF, Taracila MA, Feldgarden M, Haft DH, Klimke W, Prasad AB, Bonomo RA.   +8 more
europepmc   +1 more source

The location of 11 am alleles in linkage group 5

, 1962
B. R. Smith
openalex   +2 more sources

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Identification of favorable alleles from exotic Upland cotton lines for fiber quality improvement using multiple association models. [PDF]

Front Plant Sci
Mangla H, Liu M, Vitrakoti D, Somala RV, Shehzad T, Chandnani R, Das S, Wallace JG, Snider JL, Jones DC, Chee PW, Paterson AH.   +11 more
europepmc   +1 more source

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Seasonal malaria chemoprevention and mutations in <i>Pfdhfr</i> and <i>Pfdhps</i> genes in children in the health district of Nanoro, Burkina Faso. [PDF]

Malariaworld J
Millogo KS, Zabré A, Sondo P, Kaboré B, Kouevi AFC, Compaoré EW, Bayala IMC, Ismaïla B, Hien SF, Rouamba T, Kazienga A, Derra K, Rouamba E, Tahita MC, Ouédraogo F, Ilboudo H, Bamba S, Tinto H.   +17 more
europepmc   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source