Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.

Genetic mapping studies of familial benign hypercalcemia type 3 (FBH3) on chromosome 19q13.

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Cianferotti, L, Pannett, A, Whyte, M, Thakker, R
التنسيق:	Journal article
منشور في:	1999

مواد مشابهة

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
حسب: Trump, D, وآخرون
منشور في: (1995)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
حسب: Lloyd, SE, وآخرون
منشور في: (1999)

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.
حسب: Trump, D, وآخرون
منشور في: (1995)

Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
حسب: Lloyd, SE, وآخرون
منشور في: (1997)

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.
حسب: Nesbit, M, وآخرون
منشور في: (2010)

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
حسب: Hannan, F, وآخرون
منشور في: (2010)

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
حسب: Kennedy, A, وآخرون
منشور في: (2002)

MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
حسب: Pang, J, وآخرون
منشور في: (1993)

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
حسب: Pearce, S, وآخرون
منشور في: (1995)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
حسب: Nesbit, M, وآخرون
منشور في: (2013)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
حسب: Nesbit, M, وآخرون
منشور في: (2013)

Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
حسب: W. Marques Jr., وآخرون
منشور في: (2004-11-01)

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
حسب: Stacey, J, وآخرون
منشور في: (2003)

A failure of meiotic chromosome segregation in a fbh1Delta mutant correlates with persistent Rad51-DNA associations.
حسب: Sun, W, وآخرون
منشور في: (2011)

MAPPING OF CHROMOSOME 22Q13.31 TO THE TELOMERE
حسب: Mcdermid, H, وآخرون
منشور في: (1994)

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

Fbh1 limits Rad51-dependent recombination at blocked replication forks.
حسب: Lorenz, A, وآخرون
منشور في: (2009)

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
حسب: Neklason Deborah W, وآخرون
منشور في: (2010-05-01)

Comparative analysis of a BAC contig of porcine chromosome 13q31-q32 and human chromosome 3q21-q22
حسب: Van Zeveren Alex, وآخرون
منشور في: (2005-09-01)

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
حسب: Qinxin Zhang, وآخرون
منشور في: (2023-10-01)

Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11-13 in African families.
حسب: Cervino, A, وآخرون
منشور في: (2002)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
حسب: Dixon, P, وآخرون
منشور في: (1996)

HpFBH3 transactivates HpCO7 via binding to the E-boxes in the promoter and may accelerate flower formation in pitaya
حسب: Xiaowei Cai, وآخرون
منشور في: (2025-02-01)

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.
حسب: Pang, J, وآخرون
منشور في: (1996)

Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.
حسب: Southam, L, وآخرون
منشور في: (2004)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
حسب: Andrew Nesbit, M, وآخرون
منشور في: (2004)

A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
حسب: Halford, S, وآخرون
منشور في: (1995)

A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia
حسب: Okan Bakiner, وآخرون
منشور في: (2013-08-01)

Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
حسب: Gorvin, C, وآخرون
منشور في: (2017)

Evidence that a locus for familial psoriasis maps to chromosome 4q.
حسب: Matthews, D, وآخرون
منشور في: (1996)

Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family
حسب: Chih-Ping Chen, وآخرون
منشور في: (2025-03-01)

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
حسب: Jaeger, E, وآخرون
منشور في: (2008)

Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature
حسب: Lior Baraf, وآخرون
منشور في: (2022-12-01)

Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
حسب: Etienne Ojardias, وآخرون
منشور في: (2025-12-01)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
حسب: Jie Hu, وآخرون
منشور في: (2017-06-01)

The F-Box DNA helicase Fbh1 prevents Rhp51-dependent recombination without mediator proteins.
حسب: Osman, F, وآخرون
منشور في: (2005)

Cinacalcet reverses short QT Interval in familial hypocalciuric hypercalcemia type 1
حسب: Cuny, T, وآخرون
منشور في: (2023)

Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls
حسب: Alicia R Jones, وآخرون
منشور في: (2020-06-01)

Clinical and genetic study of three families with 15q11q13 duplications
حسب: Jieping Song, وآخرون
منشور في: (2022-07-01)

A high resolution physical and RH map of pig chromosome 6q1.2 and comparative analysis with human chromosome 19q13.1
حسب: Robic Annie, وآخرون
منشور في: (2003-05-01)