Results 281 to 290 of about 379,249 (335)

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Loss of Y chromosome and its implications in male amyotrophic lateral sclerosis: insights from the UK Biobank. [PDF]

BMC Med
Su WM, Duan QQ, He SY, Liu RY, Wen XJ, Zhang N, Chen T, Cao B, Chen YP.   +8 more
europepmc   +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

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

Mol Cytogenet
Salmaninejad A, Yaghoubi Z, Haghzad T, Latifi M, Bayat R, Esnaashari S, Dalili S.   +6 more
europepmc   +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

The X Factor in Immunity: Sex Differences Shaped by the X Chromosome. [PDF]

Immunol Rev
Radovanovic KB, Wynalda M, Anguera MC.
europepmc   +1 more source

Genotype-Phenotype Correlation and Psychiatric Manifestations in a Case of Phelan-McDermid Syndrome With 22q13.33 Deletion. [PDF]

Cureus
Puente Torres MA, Palacios Casados JJ, Flores Medina Y, Gonzalez Gutierrez A, Cruz Fuentes CS.   +4 more
europepmc   +1 more source

Genetic and Epigenetic Risks of Male Infertility in ART. [PDF]

Int J Mol Sci
Zikopoulos A, Katopodis P, Filiponi M, Zachariou A, Sesse A, Bouba I, Kostoulas C, Markoula S, Georgiou I.   +8 more
europepmc   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay. [PDF]

Genes (Basel)
Jouali F, El Haddoumi G, Antra I, Benhida R, Ben Itto A, Fekkak J.   +5 more
europepmc   +1 more source