Results 121 to 130 of about 1,418 (198)

Whole exome sequencing as a screening tool in dogs: A pilot study. [PDF]

Comput Struct Biotechnol J
Boeykens F, Bogaerts E, Vossaert L, Peelman L, Van Nieuwerburgh F, Saunders JH, Broeckx BJG.   +6 more
europepmc   +1 more source

Hydrocortisone induces aortic rupture in inbred blotchy mice : implications for abdominal aortic aneurysmal disease in humans [PDF]

, 1985
Savage, Edward Bruce
core   +1 more source

Reverse Shapiro Syndrome Presenting as Fever of Unknown Origin: A Case Report and Review of the Literature. [PDF]

Cureus
Kotsi E, Thomas K, Palkopoulou M, Papavdi M, Kaparou P, Pelekanos A, Deutsch M, Vassilopoulos D, Koullias E.   +8 more
europepmc   +1 more source

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Eur J Med Genet
Harkness JR, Thomas HB, Urquhart JE, Jamieson P, Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG.   +8 more
europepmc   +1 more source

Menkes Kinky Hair Syndrome in a Black Infant

Archives of Pediatrics & Adolescent Medicine, 1974
Copper deficiency has been shown to be characteristic of kinky hair syndrome, and it is postulated to be responsible for the clinicopathological features of this sex-linked, recessive, neurodegenerative disorder. The syndrome includes seizures, mental retardation, abnormal hair, skeletal deformities, abnormally tortuous arteries, hypothermia, and early
Edward J. Volpintesta
openalex   +3 more sources

MENKES' KINKY-HAIR SYNDROME

The Lancet, 1972
Abstract Copper deficiency has been demonstrated in seven babies with Menkes' kinky-hair syndrome. Gross changes in free sulphydryl groups in hair keratin, consistent with copper deficiency, probably explain the kinky hair. Copper deficiency also explains the important changes in the elastic fibres in the arterial walls, the scorbutic bone changes ...
D. M. Danks, P E Campbell, J A Walker‐Smith, B. Stevens, J. M. Gillespie, Jeanette Blomfield, B Turner   +6 more
openalex   +3 more sources

Early osseous abnormalities in Menkes' Kinky Hair Syndrome

Pediatric Radiology, 1979
Bone changes in a 4 m.o. infant with Menkes' Kinky Hair Syndrome, who also had a skeletal survey as a newborn, are reported. Whereas the late bone changes were diagnostic, the neonatal ones were similar to congenital rubella and cytomegalic virus infection. However the distribution of the metaphyseal changes were different.
K. Kozlowski, R. McCrossin
openalex   +3 more sources

Menkes kinky hair disease (Menkes syndrome). A case report.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2006
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others.
Petja Fister, Jona Rakus, Zvonka Rener Primec, Barbara Gnidovec Stražišar   +3 more
openalex   +3 more sources

Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)

American Journal of Diseases of Children, 1973
Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure, and early death, was first described by Menkes et al. 1 Since the original description, 11 more cases have been reported from this country.
Simerun Singh
openalex   +3 more sources