Zobrazeno 1 - 10
of 30
pro vyhledávání: '"V V, Michels"'
Publikováno v:
Prenatal diagnosis. 20(2)
We describe two families in which an inherited interstitial deletion is present without apparent associated phenotypic abnormalities. The first deletion was discovered in a 19-year-old male with a previously diagnosed peroxisomal disorder. High-resol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7e6eb8480401f18ac0f59f6ed1a2217
https://pubmed.ncbi.nlm.nih.gov/10694687
https://pubmed.ncbi.nlm.nih.gov/10694687
Publikováno v:
American journal of medical genetics. 85(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3635ad8593baf5b6e59050e881591359
https://pubmed.ncbi.nlm.nih.gov/10398245
https://pubmed.ncbi.nlm.nih.gov/10398245
Publikováno v:
American journal of medical genetics. 79(5)
Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and perip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::351f2ad97216e83fe7d219e77acf7575
https://pubmed.ncbi.nlm.nih.gov/9779806
https://pubmed.ncbi.nlm.nih.gov/9779806
Autor:
S N, Thibodeau, A J, French, J M, Cunningham, D, Tester, L J, Burgart, P C, Roche, S K, McDonnell, D J, Schaid, C W, Vockley, V V, Michels, G H, Farr, M J, O'Connell
Publikováno v:
Cancer research. 58(8)
Recent studies have demonstrated the presence of microsatellite instability (MSI) in tumors from patients with hereditary nonpolyposis colorectal cancer and in a large number of sporadic tumors. To further characterize the type of alterations at thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::56b0a43b614255f79c0c38f402586546
https://pubmed.ncbi.nlm.nih.gov/9563488
https://pubmed.ncbi.nlm.nih.gov/9563488
Publikováno v:
American journal of medical genetics. 72(1)
Familial paragangliomas (PGL), or glomus tumors, are slow-growing, highly vascular, generally benign neoplasms usually of the head and neck that arise from neural crest cells. This rare autosomal-dominant disorder is highly penetrant and influenced b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf48e3369722ef02ec1eda078448d97a
https://pubmed.ncbi.nlm.nih.gov/9295078
https://pubmed.ncbi.nlm.nih.gov/9295078
Publikováno v:
American journal of medical genetics. 72(1)
We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of "mixed sclerosing bone dysplasia" h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8da9667b1f49062a9d6348bd5edd701
https://pubmed.ncbi.nlm.nih.gov/9295073
https://pubmed.ncbi.nlm.nih.gov/9295073
Publikováno v:
American journal of medical genetics. 70(3)
Hajdu-Cheney syndrome is an autosomal dominant disorder of acroosteolysis, skull deformities, characteristic facial abnormalities, osteoporosis, joint laxity, early loss of teeth, hearing loss, and a hoarse voice. We report on an 8 1/2-year-old boy w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7dbf4f4152e8acab0d55de7ad7e5ba8
https://pubmed.ncbi.nlm.nih.gov/9188663
https://pubmed.ncbi.nlm.nih.gov/9188663
Publikováno v:
American journal of medical genetics. 63(4)
Tracheoesophageal fistula (TEF) may occur as an isolated malformation or together with other malformations. To determine the recurrence risk of TEF or associated malformations in children and sibs, and to determine the frequency of associated malform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0baad1554eac567d228a9af60fc4a165
https://pubmed.ncbi.nlm.nih.gov/8826429
https://pubmed.ncbi.nlm.nih.gov/8826429
Autor:
C J, Williams, A, Ganguly, E, Considine, S, McCarron, D J, Prockop, C, Walsh-Vockley, V V, Michels
Publikováno v:
American journal of medical genetics. 63(3)
Hereditary progressive arthro-ophthalmopathy, or "Stickler syndrome," is an autosomal dominant osteochondrodysplasia characterized by a variety of ocular and skeletal anomalies which frequently lead to retinal detachment and precocious osteoarthritis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::627cfc8fdf7f8701585d8e165d6ea2b1
https://pubmed.ncbi.nlm.nih.gov/8737653
https://pubmed.ncbi.nlm.nih.gov/8737653
Publikováno v:
Clinical dysmorphology. 4(2)
A two and a half-year-old girl was diagnosed with trisomy 9 mosaicism that was detected in 22% of skin fibroblasts but was not evident in blood. This child manifests some clinical features not previously reported in trisomy 9 mosaicism including a th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a23fff8a281eb06aaef5c37dc573a766
https://pubmed.ncbi.nlm.nih.gov/7606325
https://pubmed.ncbi.nlm.nih.gov/7606325