Results 281 to 290 of about 919,210 (312)

X-linked centronuclear myopathy: Mapping the gene to Xq28

Neuromuscular Disorders, 1991
The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized hypotonia, muscle weakness and primary asphyxia, has recently been mapped to Xq28. This report presents linkage analysis data of eight families with X-linked centronuclear myopathy.
Liechti-Gallati S, Müller B, Grimm T, Kress W, Müller C, Boltshauser E, Moser H, Braga S   +7 more
openaire   +3 more sources

X-linked Genes and Sex Chromosomes

2017
This chapter discusses the presence or absence of sex chromosomes that determines the sex of the individual. It explains that sex is defined by having two different sex chromosomes or being heterogametic, such as human males that are XY. It also looks at the consequences for the inheritance of genes on the X chromosome, wherein different patterns of ...
Philip Meneely, Rachel Dawes Hoang, Rachel Dawes Hoang, Iruka N. Okeke, Katherine Heston   +4 more
openaire   +1 more source

Reactivation of inactive X‐linked genes

Developmental Genetics, 1994
S M, Gartler, M A, Goldman
openaire   +2 more sources

[Gene diagnosis of X-linked agammaglobulinemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010
X-linked agammaglobulinemia (XLA) is the most common disorder among primary immunodeficiency diseases, which is caused by mutations in the cytoplasmic Bruton's tyrosine kinase (BTK) gene, characterized by lack of mature, circulating B lymphocytes, hypogammaglobulinemia, and recurrent bacterial infections. Mutations in BTK are highly diverse.
Xiao-chuan, Wang, Ying, Wang, Hirokazu, Kanegane, Miyawaki, Toshio, Ye-heng, Yu   +4 more
openaire   +1 more source

Familial correlations and X-linked genes: A comment.

Psychological Bulletin, 1984
openaire   +2 more sources

Definition of the Gene Loci in X-Linked Immunodeficiencies

Immunological Investigations, 1988
M E, Conley, J M, Puck
openaire   +2 more sources

[Gene deletion of X-linked ichthyosis].

Zhonghua yi xue za zhi, 1992
The characterization of steroid sulfatase (STS) gene mutation from seven X-linked ichthyotic patients was performed by multiple polymerase chain reaction (MPCR) which amplified two specific regions at the 5' and 3' end of STS gene. The results indicated that five out seven patients were found to have entire STS gene deletion.
openaire   +1 more source

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Progress in Retinal and Eye Research, 2021
Samantha R de Silva, Gavin Arno, Anthony G Robson   +2 more
exaly  

X-linked CMT: genes and gene loci in an Australian cohort

neurogenetics, 2010
Megan Hwa, Brewer, Rabia, Chaudhry, Keta, McDowall, Shannon, Chu, Bartosz, Kowalski, Patsie, Polly, Garth, Nicholson, Marina, Kennerson   +7 more
openaire   +2 more sources

Difficulty Accepting a Terminal Prognosis Linked with Depression, Anxiety, and Suffering

Ca-A Cancer Journal for Clinicians, 2010
John Henry Dreyfuss
exaly