Results 291 to 300 of about 379,249 (335)

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source

MCT8 Deficiency in Females.

J Clin Endocrinol Metab
Groeneweg S, van Geest FS, van der Most F, Abela L, Alfieri P, Bauer AJ, Bertini E, Cappa M, Çelik N, de Coo IFM, Dolcetta-Capuzzo A, Dubinski I, Granadillo JL, Hoefsloot LH, Kalscheuer VM, van der Knoop MM, Krude H, McNerney KP, Paone L, Peeters RP, Peters C, Schuelke M, Schweizer U, Sprague JE, van Trotsenburg ASP, Wilpert NM, Zanni G, van Zutven LJCM, Visser WE.   +28 more
europepmc   +1 more source

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Sex Chromosome Disorders

CRC Critical Reviews in Clinical Laboratory Sciences, 1981
A critical and comprehensive review of the major sex chromosome disorders. The introduction briefly outlines the cytogenetic background to these disorders and refers to earlier reviews. The paper then reviews the clinical and psychiatric aspects of the various chromosome disorders.
David Pitcher, V. A. Cowie
openaire   +2 more sources

Sex Chromosome Disorders

New England Journal of Medicine, 1976
The sex chromosome abnormalities are one of the most common types of chromosome disorders, occurring once among every 1100 females and once among every 380 males.
openaire   +2 more sources

Autosomal Chromosome Disorders and Variations

New England Journal of Medicine, 1976
Chromosomal abnormalities or variations are related to genetics in three ways: they involve the genetic material, and in that sense are always "genetic"; most of the variants and a proportion of the structural rearrangements are directly transmitted from parent to offspring (i.e., such changes can be inherited); and some of the chromosome abnormalities
O J, Miller, W R, Breg
openaire   +2 more sources

Chromosomal Disorders and Autism

Journal of Autism and Developmental Disorders, 1998
Many cases of autism appear to be caused by several abnormal genes acting in concert. The literature on chromosomal aberrations in autism is reviewed, with a view to finding potential gene markers for the neuropsychiatric disorder. Most of the chromosomes have been implicated in the genesis of autism.
openaire   +2 more sources

Behavioral Aspects of Chromosomal Disorders

Annual Review of Medicine, 1973
Chromosomal abnormalities occur in approximately one out of every 200 liveborn children; about half involve the autosomes and half the sex chromo­ somes (1). In the USA alone, 18,000 to 20,000 children are born each year with a chromosomal disorder; at any given time over 1,000,000 individuals may be carriers of these abnormalities (2). The possibility
S, Kessler, R H, Moos
openaire   +2 more sources

Chromosomal disorders associated with epilepsy

Epileptic Disorders, 2005
Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns.
Battaglia A, GUERRINI, RENZO
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Genomic disorders on chromosome 22

Current Opinion in Pediatrics, 2012
Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis.
Shihui, Yu, William D, Graf, Robert J, Shprintzen   +2 more
openaire   +2 more sources