Výsledky vyhledávání

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

Autor: C B, Cargile, I, McIntosh, M V, Clough, J, Rutberg, R, Yaghmai, B K, Goodman, X N, Chen, J R, Korenberg, G H, Thomas, M T, Geraghty

Publikováno v: American journal of medical genetics. 92(5)

The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::26418d19d8c2c17e17c791977b61f9d0
https://pubmed.ncbi.nlm.nih.gov/10861662

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Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients

Autor: M V, Clough, J D, Hamlington, I, McIntosh

Publikováno v: Human mutation. 14(6)

Nail-patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive kidney disease. The syndrome is inherited in an autosomal dominant manner and has been shown

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fbc2d73d1d27e9d116983bea2fd8d2f8
https://pubmed.ncbi.nlm.nih.gov/10571942

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Fine mapping of the nail-patella syndrome locus at 9q34

Autor: I, McIntosh, M V, Clough, A A, Schäffer, E G, Puffenberger, V K, Horton, K, Peters, M H, Abbott, C M, Roig, S, Cutone, L, Ozelius, D J, Kwiatkowski, R E, Pyeritz, L J, Brown, R M, Pauli, M K, McCormick, C A, Francomano

Publikováno v: American journal of human genetics. 60(1)

Nail-patella syndrome (NPS), or onychoosteodysplasia, is an autosomal dominant, pleiotropic disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and nephropathy. Previous studies have demonstrated linkage of the nail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14eb4bdb3f28305bb79505320d852c18
https://pubmed.ncbi.nlm.nih.gov/8981956

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Achondroplasia and nail-patella syndrome: the compound phenotype

Autor: M J Wright, Michael C. Ain, M V Clough, Gary A. Bellus, Orest Hurko, Iain McIntosh

Publikováno v: Journal of Medical Genetics. 37:25e-25

Editor—Achondroplasia (MIM 100800) is one of the most common chondrodysplasias with a prevalence rate of around 1 in 26 000 live births.1 Inheritance is autosomal dominant, but in around 85% the phenotype is the result of a new mutation. Common fea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcd7df8eee481e7b184c6d10f7a3f38
https://doi.org/10.1136/jmg.37.9.e25

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