The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred.

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterized by the occurrence of parathyroid tumours and fibro-osseous tumours of the jaw bones. Some HPT-JT patients may also develop renal abnormalities, which include Wilms' tumours, hamartomas and polycy...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Cavaco, B, Barros, L, Pannett, A, Ruas, L, Carvalheiro, M, Ruas, M, Krausz, T, Santos, M, Sobrinho, L, Leite, V, Thakker, R
التنسيق:	Journal article
اللغة:	English
منشور في:	2001

مواد مشابهة

Clinical and genetic studies of the hyperparathyroidism-jaw tumor syndrome (HPT-JT) in a kindred from Portugal.
حسب: Cavaco, B, وآخرون
منشور في: (1999)

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome
حسب: Bradley, K, وآخرون
منشور في: (2006)

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome.
حسب: Bradley, K, وآخرون
منشور في: (2005)

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31.
حسب: Williamson, C, وآخرون
منشور في: (1999)

Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (vol 14, pg 230, 1999)
حسب: Williamson, C, وآخرون
منشور في: (1999)

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.
حسب: Cavaco, B, وآخرون
منشور في: (2004)

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))
حسب: Williamson, C, وآخرون
منشور في: (1999)

Mutational analysis of Portuguese families with multiple endocrine neoplasia type 1 reveals large germline deletions.
حسب: Cavaco, B, وآخرون
منشور في: (2002)

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.
حسب: Bradley, K, وآخرون
منشور في: (2006)

Hyperparathyroidism-Jaw Tumor Syndrome
حسب: Travis D. Weaver, وآخرون
منشور في: (2021-02-01)

Mice deleted for Cell division cycle 73 gene develop parathyroid and uterine tumours: model for the Hyperparathyroidism-Jaw Tumour Syndrome
حسب: Walls, G, وآخرون
منشور في: (2017)

The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature
حسب: Maxim Barnett, وآخرون
منشور في: (2021-01-01)

Multiple Cemento-Ossifying Fibroma: A Sign of Hyperparathyroidism-Jaw Tumour Syndrome
حسب: Nurul Inaas Mahamad Apandi, وآخرون
منشور في: (2023-01-01)

A novel AVPR2 mutation in a kindred with nephrogenic diabetes insipidus
حسب: Lemos, M, وآخرون
منشور في: (2002)

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
حسب: Carpten, J, وآخرون
منشور في: (2002)

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome
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منشور في: (2017-10-01)

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
حسب: Newey, P, وآخرون
منشور في: (2010)

A 5-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a 6-generation Arkansas kindred.
حسب: Mumm, S, وآخرون
منشور في: (2000)

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred.
حسب: Mumm, S, وآخرون
منشور في: (2000)

Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31.
حسب: Szabó, J, وآخرون
منشور في: (1995)

Ossifying fibroma of the jaw bones in hyperparathyroidism-jaw tumor syndrome: Analysis of 24 cases retrieved from literatures
حسب: Hazim Mahmoud Ibrahem
منشور في: (2020-12-01)

KINDRED IN DEATH /
حسب: Robb, J. D., 1950-, author 233833
منشور في: (2009)

Prevalência da HTA na acromegália.
حسب: L Barros, وآخرون
منشور في: (1997-01-01)

Jaw bone changes in panoramic radiography in patients with hyperparathyroidism
حسب: Maryam Mohammadi, وآخرون
منشور في: (2024-09-01)

PORTUGUESE LITERATURE FOR CHILDREN: AQUILINO RIBEIRO AND MATILDE ROSA ARAÚJO
حسب: Luci Ruas
منشور في: (2014-11-01)

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
حسب: Pannett, A, وآخرون
منشور في: (2003)

Deficiência de GH nas crianças. Reavaliação após conclusão terapêutica.
حسب: T Martins, وآخرون
منشور في: (2000-12-01)

Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature
حسب: Francesca Torresan, وآخرون
منشور في: (2019-01-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
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منشور في: (1997)

LINKAGE STUDIES IN A KINDRED WITH AUTOSOMAL-DOMINANT SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD) INDICATE GENETIC-HETEROGENEITY
حسب: Gertner, J, وآخرون
منشور في: (1995)

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
حسب: Fabienne Charbit-Henrion, وآخرون
منشور في: (2018-01-01)

Sociokarma and Kindred Spirits: An Acknowledgement
حسب: Susanne Kerekes
منشور في: (2023-12-01)

Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome
حسب: Gwendolyn Fernandes, وآخرون
منشور في: (2025-01-01)

A family case report of parathyroid carcinoma associated with CDC73 mutation in hyperparathyroidism-jaw tumor syndrome
حسب: Yian Gu, وآخرون
منشور في: (2024-01-01)

Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
حسب: Mumm, S, وآخرون
منشور في: (1996)

BROWN TUMOR AT THE JAW IN PATIENTS WITH SECONDARY HYPERPARATHYROIDISM DUE TO CHRONIC RENAL FAILURE
حسب: Petia F. Pechalova, وآخرون
منشور في: (2013-01-01)

Malignant mimic: Brown tumours of primary hyperparathyroidism
حسب: Brett S. Mansfield, وآخرون
منشور في: (2022-09-01)

Familial Creutzfeldt-Jakob disease in an Indian kindred
حسب: Sarosh M Katrak, وآخرون
منشور في: (2019-01-01)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
حسب: Trump, D, وآخرون
منشور في: (1993)

The tides : and kindred phenomena in the solar system/
حسب: 187515 Darwin, George Howard
منشور في: (1962)