Results 111 to 120 of about 889,739 (199)
[Alström-syndrome: a missed diagnosis with consequences] [PDF]
, 2003 BACKGROUND: Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss.
Baumeister, FA;Sadowski, B;Schmitz, T;Grübl, A
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Cep164, a novel centriole appendage protein required for primary cilium formation [PDF]
, 2007 Primary cilia (PC) function as microtubule-based sensory antennae projecting from the surface of many eukaryotic cells. They play important roles in mechano- and chemosensory perception and their dysfunction is implicated in developmental disorders and ...
Graser, Susanne +20 more
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Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
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Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
Journal of Medical Case Reports, 2011 Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D +2 more
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Down syndrome and parity. [PDF]
, 1999 OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries.
Working Group on Down Syndrome +4 more
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Case Reports in Genetics, 2011 There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda +2 more
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Characterization of the murine lbx2 promoter, identification of the human homologue, and evaluation as a candidate for alstrom syndrome. [PDF]
, 2001 The murine Lbx2 gene is a member of the ladybird family of homeobox genes, which is expressed in the developing urogenital system, eye, and brain. Using transgenic mice, we demonstrate that 9 kb of the 5\u27 flanking region of mouse Lbx2 is able to ...
Liu, K C +7 more
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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. [PDF]
, 2007 Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated ...
Zhang, W +16 more
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A Case With Renal Failure, Hearing Loss and Double Ureters
Turkish Journal of Nephrology, 2019 In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR +6 more
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. [PDF]
, 2011 Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alstrom syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group ...
Valverde, D +8 more
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