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.

Bibliografski detalji
Glavni autori:	Cianferotti, L, Pannett, A, Whyte, M, Thakker, R
Format:	Journal article
Izdano:	1999

Slični predmeti

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
od: Trump, D, i dr.
Izdano: (1995)

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
od: Lloyd, SE, i dr.
Izdano: (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.
od: Trump, D, i dr.
Izdano: (1995)

Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
od: Lloyd, SE, i dr.
Izdano: (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.
od: Nesbit, M, i dr.
Izdano: (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.
od: Hannan, F, i dr.
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Spondyloepimetaphyseal dysplasia, Missouri variant, is located on chromosome 11q22.3 and is caused by a mutation of matrix metalloproteinase 13 (MMP13).
od: Kennedy, A, i dr.
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MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
od: Pang, J, i dr.
Izdano: (1993)

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
od: Pearce, S, i dr.
Izdano: (1995)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
od: Nesbit, M, i dr.
Izdano: (2013)

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
od: Nesbit, M, i dr.
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Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
od: W. Marques Jr., i dr.
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Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
od: Stacey, J, i dr.
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A failure of meiotic chromosome segregation in a fbh1Delta mutant correlates with persistent Rad51-DNA associations.
od: Sun, W, i dr.
Izdano: (2011)

MAPPING OF CHROMOSOME 22Q13.31 TO THE TELOMERE
od: Mcdermid, H, i dr.
Izdano: (1994)

LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
od: Trump, D, i dr.
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Fbh1 limits Rad51-dependent recombination at blocked replication forks.
od: Lorenz, A, i dr.
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Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
od: Neklason Deborah W, i dr.
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Comparative analysis of a BAC contig of porcine chromosome 13q31-q32 and human chromosome 3q21-q22
od: Van Zeveren Alex, i dr.
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11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
od: Qinxin Zhang, i dr.
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Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11-13 in African families.
od: Cervino, A, i dr.
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HpFBH3 transactivates HpCO7 via binding to the E-boxes in the promoter and may accelerate flower formation in pitaya
od: Xiaowei Cai, i dr.
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Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
od: Dixon, P, i dr.
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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.
od: Pang, J, i dr.
Izdano: (1996)

Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.
od: Southam, L, i dr.
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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
od: Andrew Nesbit, M, i dr.
Izdano: (2004)

A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
od: Halford, S, i dr.
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A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia
od: Okan Bakiner, i dr.
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Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss‐of‐function Gα11 mutation
od: Gorvin, C, i dr.
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Evidence that a locus for familial psoriasis maps to chromosome 4q.
od: Matthews, D, i dr.
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Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family
od: Chih-Ping Chen, i dr.
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Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
od: Jaeger, E, i dr.
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Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature
od: Lior Baraf, i dr.
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Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
od: Etienne Ojardias, i dr.
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Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
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The F-Box DNA helicase Fbh1 prevents Rhp51-dependent recombination without mediator proteins.
od: Osman, F, i dr.
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Cinacalcet reverses short QT Interval in familial hypocalciuric hypercalcemia type 1
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Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls
od: Alicia R Jones, i dr.
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Clinical and genetic study of three families with 15q11q13 duplications
od: Jieping Song, i dr.
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A high resolution physical and RH map of pig chromosome 6q1.2 and comparative analysis with human chromosome 19q13.1
od: Robic Annie, i dr.
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