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.

Chi tiết về thư mục
Những tác giả chính:	Cianferotti, L, Pannett, A, Whyte, M, Thakker, R
Định dạng:	Journal article
Được phát hành:	1999

Những quyển sách tương tự

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
Bằng: Trump, D, et al.
Được phát hành: (1995)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Bằng: Lloyd, SE, et al.
Được phát hành: (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.
Bằng: Trump, D, et al.
Được phát hành: (1995)

Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
Bằng: Lloyd, SE, et al.
Được phát hành: (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.
Bằng: Nesbit, M, et al.
Được phát hành: (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.
Bằng: Hannan, F, et al.
Được phát hành: (2010)

Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
Bằng: Kennedy, A, et al.
Được phát hành: (2002)

MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
Bằng: Pang, J, et al.
Được phát hành: (1993)

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Bằng: Pearce, S, et al.
Được phát hành: (1995)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
Bằng: Nesbit, M, et al.
Được phát hành: (2013)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Bằng: Nesbit, M, et al.
Được phát hành: (2013)

Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
Bằng: W. Marques Jr., et al.
Được phát hành: (2004-11-01)

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
Bằng: Stacey, J, et al.
Được phát hành: (2003)

A failure of meiotic chromosome segregation in a fbh1Delta mutant correlates with persistent Rad51-DNA associations.
Bằng: Sun, W, et al.
Được phát hành: (2011)

MAPPING OF CHROMOSOME 22Q13.31 TO THE TELOMERE
Bằng: Mcdermid, H, et al.
Được phát hành: (1994)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
Bằng: Trump, D, et al.
Được phát hành: (1993)

Fbh1 limits Rad51-dependent recombination at blocked replication forks.
Bằng: Lorenz, A, et al.
Được phát hành: (2009)

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
Bằng: Neklason Deborah W, et al.
Được phát hành: (2010-05-01)

Comparative analysis of a BAC contig of porcine chromosome 13q31-q32 and human chromosome 3q21-q22
Bằng: Van Zeveren Alex, et al.
Được phát hành: (2005-09-01)

HpFBH3 transactivates HpCO7 via binding to the E-boxes in the promoter and may accelerate flower formation in pitaya
Bằng: Xiaowei Cai, et al.
Được phát hành: (2025-02-01)

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
Bằng: Qinxin Zhang, et al.
Được phát hành: (2023-10-01)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
Bằng: Dixon, P, et al.
Được phát hành: (1996)

Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11-13 in African families.
Bằng: Cervino, A, et al.
Được phát hành: (2002)

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.
Bằng: Pang, J, et al.
Được phát hành: (1996)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
Bằng: Andrew Nesbit, M, et al.
Được phát hành: (2004)

Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.
Bằng: Southam, L, et al.
Được phát hành: (2004)

A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
Bằng: Halford, S, et al.
Được phát hành: (1995)

Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
Bằng: Gorvin, C, et al.
Được phát hành: (2017)

A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia
Bằng: Okan Bakiner, et al.
Được phát hành: (2013-08-01)

Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family
Bằng: Chih-Ping Chen, et al.
Được phát hành: (2025-03-01)

Evidence that a locus for familial psoriasis maps to chromosome 4q.
Bằng: Matthews, D, et al.
Được phát hành: (1996)

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
Bằng: Jaeger, E, et al.
Được phát hành: (2008)

High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus
Bằng: Bonavita Gina, et al.
Được phát hành: (2002-08-01)

Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature
Bằng: Lior Baraf, et al.
Được phát hành: (2022-12-01)

The F-Box DNA helicase Fbh1 prevents Rhp51-dependent recombination without mediator proteins.
Bằng: Osman, F, et al.
Được phát hành: (2005)

Familial Hypocalciuric Hypercalcemia and Benefits of Genetic Confirmation: A Case Report and Review
Bằng: Respina Jalilian, et al.
Được phát hành: (2017-01-01)

Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
Bằng: Etienne Ojardias, et al.
Được phát hành: (2025-12-01)

Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
Bằng: Maryam Zahedi, et al.
Được phát hành: (2021-11-01)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
Bằng: Jie Hu, et al.
Được phát hành: (2017-06-01)

Cinacalcet reverses short QT Interval in familial hypocalciuric hypercalcemia type 1
Bằng: Cuny, T, et al.
Được phát hành: (2023)