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.

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Cianferotti, L, Pannett, A, Whyte, M, Thakker, R
Formáid:	Journal article
Foilsithe / Cruthaithe:	1999

Míreanna comhchosúla

LINKAGE STUDIES IN A KINDRED FROM OKLAHOMA WITH FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA (FBH) INDICATE GENETIC-HETEROGENEITY AND A 3RD LOCUS FOR FBH
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Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
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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.
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Familial benign hypercalcaemia, Oklahoma variant (FBHok): Localisation to chromosome 19q13.
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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.
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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.
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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).
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MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1
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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3
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Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
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A failure of meiotic chromosome segregation in a fbh1Delta mutant correlates with persistent Rad51-DNA associations.
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MAPPING OF CHROMOSOME 22Q13.31 TO THE TELOMERE
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LINKAGE STUDIES IN A KINDRED WITH HYPOCALCIURIC HYPERCALCEMIA AND INCREASING SERUM PARATHYROID-HORMONE LEVELS INDICATE GENETIC-HETEROGENEITY
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Fbh1 limits Rad51-dependent recombination at blocked replication forks.
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Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer
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HpFBH3 transactivates HpCO7 via binding to the E-boxes in the promoter and may accelerate flower formation in pitaya
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Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13.
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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.
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A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.
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A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia
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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
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Evidence that a locus for familial psoriasis maps to chromosome 4q.
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Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family
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Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk.
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Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature
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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.
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