Results 11 to 20 of about 9,256,185 (298)
Acta Neurologica Scandinavica, 1991 This paper describes a family with 10 males affected by x-linked spastic paraplegia. X-linked inheritance is rarely encountered in pure and complicated forms of hereditary spastic paraplegia. The disease was characterized by hyperreflexia, progressive spastic gait disorder, extensor plantar responses and mental retardation in all of the affected ...
Ulku, A +3 more
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Pediatric Neurology Briefs, 1993 An X-linked recessive disease with a fatal course in early childhood is reported in a five-generation Dutch family from the Netherlands.
J Gordon Millichap
doaj +2 more sources
Pediatric Neurology Briefs, 1997 Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
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Inheritance of most X‐linked traits is not dominant or recessive, just X‐linked
American Journal of Medical Genetics Part A, 2004 AbstractThe existence of X‐linked disorders in humans has been recognized for many centuries, based on lessons in religious texts and observations of specific human families (e.g., color blindness or Daltonism). Our modern concepts of Mendelian (including X‐linked) inheritance originated just after the turn of the last century.
Dobyns, WB +7 more
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Genetics of X-Linked Adrenoleukodystrophy
Pediatric Neurology Briefs, 2002 An 8.5-year-old girl with cerebral X-linked adrenoleukodystrophy is reported from Ben-Gurion University, Beer Sheva, Israel, and Johns Hopkins University, Baltimore, MD.
J Gordon Millichap
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, 2013 Ten percent of cases of intellectual deficiency in boys are caused by genes located on the X chromosome. X-linked mental retardation (XLMR) includes more than 200 syndromes and 80 genes identified to date. The fragile X syndrome is the most frequent syndrome, due to a dynamic mutation with a CGG triplet amplification.
Des Portes, Vincent, Vincent des Portes
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Prognosis of X-Linked Adrenoleukodystrophy
Pediatric Neurology Briefs, 2005 The natural history of X-linked adrenoleukodystrophy (ALD) was determined by questionnaire survey in a nation-wide retrospective study of 145 patients at Gifu University School of Medicine, and the Ministry of Health, Labor and Welfare, Japan.
J Gordon Millichap
doaj +2 more sources
A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]
, 2008 Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz +2 more
core +4 more sources
Cold Spring Harbor Perspectives in Medicine, 2023 X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual impairment in males starting at a young age with an estimated prevalence of 1:5000 to 1:25,000. The condition was first observed in two affected brothers by Josef Haas in 1898 and is clinically diagnosed by characteristic intraretinal cysts arranged in a petaloid ...
Ku, Cristy A. +2 more
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