Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.

A Portuguese kindred with autosomal dominant isolated primary hyperparathyroidism (HPT) that was associated with parathyroid adenomas and carcinomas was investigated with the aim of determining the chromosomal location of this gene, designated HPTPort. Leukocyte DNA from 9 affected and 16 unaffected...

書誌詳細
主要な著者:	Williamson, C, Cavaco, B, Jauch, A, Dixon, P, Forbes, S, Harding, B, Holtgreve-Grez, H, Schoell, B, Pereira, M, Font, A, Loureiro, M, Sobrinho, L, Santos, M, Thakker, R, Jausch, A
フォーマット:	Journal article
言語:	English
出版事項:	1999

類似資料

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (vol 14, pg 230, 1999)
著者:: Williamson, C, 等
出版事項: (1999)

Erratum: Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (Journal of Bone and Mineral Research (February 1999) 14 (230-239))
著者:: Williamson, C, 等
出版事項: (1999)

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.
著者:: Cavaco, B, 等
出版事項: (2001)

Clinical and genetic studies of the hyperparathyroidism-jaw tumor syndrome (HPT-JT) in a kindred from Portugal.
著者:: Cavaco, B, 等
出版事項: (1999)

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
著者:: Bradley, K, 等
出版事項: (2006)

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.
著者:: Szabó, J, 等
出版事項: (1995)

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
著者:: Lemos, M, 等
出版事項: (2005)

Genetics of neuroendocrine and carcinoid tumours.
著者:: Leotlela, P, 等
出版事項: (2003)

Genetic abnormalities in carcinoid tumours
著者:: Leotlela, P, 等
出版事項: (2003)

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.
著者:: Cavaco, B, 等
出版事項: (2004)

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism.
著者:: Bradley, K, 等
出版事項: (2005)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
著者:: Mumm, S, 等
出版事項: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
著者:: Mumm, S, 等
出版事項: (2000)

Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom.
著者:: Kemp, Z, 等
出版事項: (2006)

Red cell abnormalities in a kindred with an uncommon form of hereditary spherocytosis.
著者:: G Olim, 等
出版事項: (1985-05-01)

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
著者:: Pannett, A, 等
出版事項: (2003)

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
著者:: Aldred, M, 等
出版事項: (2002)

Hereditary forms of primary hyperparathyroidism
著者:: Elizaveta O. Mamedova, 等
出版事項: (2018-12-01)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
著者:: Andrew Nesbit, M, 等
出版事項: (2004)

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
著者:: Nesbit, M, 等
出版事項: (2010)

KINDRED IN DEATH /
著者:: Robb, J. D., 1950-, author 233833
出版事項: (2009)

X-linked hypophosphataemic rickets in a Saudi Arabian kindred results from a nonsense mutation of the PEX gene.
著者:: Dixon, P, 等
出版事項: (1997)

Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
著者:: Gertner, J, 等
出版事項: (1997)

A novel AVPR2 mutation in a kindred with nephrogenic diabetes insipidus
著者:: Lemos, M, 等
出版事項: (2002)

Novel loss of function mutations in Asian kindreds with hereditary spastic paraplegia and thin corpus callosurn (SPG11)
著者:: Baumber, L, 等
出版事項: (2007)

Hereditary C1q deficiency and systemic lupus erythematosus.
著者:: Bowness, P, 等
出版事項: (1994)

A patient with hereditary C1q deficiency
著者:: Sinasi Ozsoylu
出版事項: (2010-12-01)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
著者:: Lloyd, SE, 等
出版事項: (1999)

Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
著者:: W. Marques Jr., 等
出版事項: (2004-11-01)

Familial Creutzfeldt-Jakob disease in an Indian kindred
著者:: Sarosh M Katrak, 等
出版事項: (2019-01-01)

Hereditary C1q deficiency: a new family with C1qA deficiency
著者:: Cağman Sun-Tan, 等
出版事項: (2010-04-01)

Lymphocyte Activation Dynamics Is Shaped by Hereditary Components at Chromosome Region 17q12-q21.
著者:: Amado Carreras-Sureda, 等
出版事項: (2016-01-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
著者:: Hadad, K, 等
出版事項: (1997)

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.
著者:: Velayos-Baeza, A, 等
出版事項: (2011)

Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
著者:: Velayos-Baeza, A, 等
出版事項: (2011)

Chorea-acanthocytosis genotype in Critchley's original Kentucky neuroacanthocytosis kindred
著者:: Velayos-Baeza, A, 等
出版事項: (2011)

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.
著者:: Jaeger, E, 等
出版事項: (2003)

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
著者:: Kennedy, A, 等
出版事項: (2002)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
著者:: Gertner, J, 等
出版事項: (1995)

Sociokarma and Kindred Spirits: An Acknowledgement
著者:: Susanne Kerekes
出版事項: (2023-12-01)