Results 241 to 250 of about 2,310,607 (369)

Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities. [PDF]

Sci Rep
Chen M, Chen P, Yu S, Ai L, Yu X, Wang R, Yan J, Lin S.   +7 more
europepmc   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Triploidy and other chromosomal abnormalities in a selected line of chickens [PDF]

, 1991
M.H. Thorne, RK Collins, BL Sheldon
openalex   +1 more source

Prognostic impact of somatic mutations and additional chromosomal abnormalities in patients with myelodysplastic syndromes and chromosome 20q deletion. [PDF]

Clin Exp Med
Huang X, Li X, Liu Q, Guo J, Chen J, Zhou L, Song L, Zhang Z, Su J, Zhang Y, Yan M, He Q, Wu D, Xu F, Chang C, Wu L.   +15 more
europepmc   +1 more source

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Journal of Assisted Reproduction and Genetics, 2013
L. Pylyp, L. Spinenko, N. V. Verhoglyad, V. Zukin   +3 more
semanticscholar   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Prevalence and diagnostic dilemma of chromosomal abnormalities in the Niger Delta area of Nigeria; Is prenatal diagnosis worthwhile? [PDF]

Niger Med J
Abbey M, West BA, Amadi SC, Oloyede OA, Horsfall F, Nonye-Enyidah EI, Okagua KE, Kwosah NJ, Kua PL, Iwo-Amah RS, Ocheche US, Ononuju CN, Briggs NN, Altraide BO, Sapira-Ordu L, Inimgba N.   +15 more
europepmc   +1 more source

Chromosome analysis by non-isotopic in situ hybridization. [PDF]

, 1992
Cremer, Thomas, Lichter, Peter, Rooney, Denise E.   +2 more
core   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source