Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
about
The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosaBardet-Biedl syndrome: a molecular and phenotypic study of 18 familiesIdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMGenetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociComparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneA gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31The blind leading the obese: the molecular pathophysiology of a human obesity syndromeEvaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceHomozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinctAn autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindredsHomozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population surveyBardet-Biedl SyndromePendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationThe gene for pycnodysostosis maps to human chromosome 1cen-q21Homozygosity mapping at Alström syndrome to chromosome 2p09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotypeGenetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss.An evaluation of allele frequency estimation accuracy using pooled sequencing dataBardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.Evidence for a fourth locus in Usher syndrome type I.Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromesMolecular basis of autosomal recessive diseases among the Palestinian Arabs.Gastrointestinal bleeding and gastric outlet obstruction from Peutz-Jeghers polyposis. Diagnosis and treatment.The human obesity gene map: the 2000 update.Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies.Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31The human obesity gene map: the 2001 update.New adjustment factors and sample size calculation in a DNA-pooling experiment with preferential amplification.Autosomal recessive diseases among Palestinian Arabs.A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.DNA Pooling: a tool for large-scale association studies.
P2860
Q21203578-FBF30C45-CB11-4779-A6B2-7ABBBFACC6B7Q24317582-9C697AB1-C9E4-4EFF-ADAE-6B5B9B658B36Q24517923-92BF6008-65B3-4D2C-93BF-D30FC99D5370Q24531954-63CA447E-5FA5-4C18-9564-1F0373D24FAAQ24532021-38906E95-76A6-47E1-8CEE-9EA5EB906CF8Q24534394-F9548FEF-EDAD-4AA8-A9A8-721D86C375E8Q24534402-BFB5E6F0-E6D9-47CE-AEC0-062E7A13A19FQ24536206-D49DC724-34AB-403F-BB93-C1C0CC303F94Q24538328-2BC430B8-BA7A-4505-AF71-4FEC77860225Q24539083-CB44037F-3FA8-4271-9099-8C6C7986C78AQ24539375-7E5FB9F5-553D-49BC-9824-4D885E604D97Q24540164-68D4B34C-BE9D-475B-8C8E-6EC89C1917C5Q24595694-49866DE2-8BAC-48A7-AACA-164FE98CE415Q24610755-A0CEC8EC-3D47-4BF1-A50C-1B781AC0D893Q24632540-8BB2EAEF-0C94-4648-9D6D-0E443AC83A1BQ24673323-089194D2-B921-41A4-BA88-6DDFD608E7F8Q24675914-F59E2986-827F-4F5D-A604-2C34BFDC5548Q24676774-70578749-5B05-42BB-97DE-131460346E44Q24681777-4760A431-93CD-450E-B8F4-F666CDF1B749Q26744178-3E36A5CF-B08F-4BF8-A169-75543D350EADQ28278781-5C05DF9A-93A0-474A-9F3E-DA4AE82ECD39Q28296690-EF3077B8-F1CE-4784-B374-CF69DD6E895DQ28305514-F093C088-4AC3-4C5A-82A1-A1F2415DBC3BQ28363526-C9486023-9B9A-4025-8A7C-10ED5DB380FBQ30471657-8B25BE37-82A9-4251-BA9B-87F73ED04086Q30671082-25ACBBF8-4E4A-4CA2-B064-0B9132B18E7FQ33666530-81E29B7F-A222-46D6-A2FB-8E2F255C48A5Q33683118-5B9B24C1-F20D-46DF-AC27-FEFC4BFA5F40Q33872398-3A584B93-4B51-4D41-BE7C-2305A1D883D2Q34125582-68436432-E3FB-4E89-B53B-F39112F39FB4Q34185866-6BE1BE4C-F231-4F11-9D5B-54F4275CDBBFQ34227908-E8C99184-B6E1-41EC-A86E-801F2E7DB7FEQ34384452-0E101BB8-CB9D-40BB-9560-F0A587BDC082Q34385302-C6B7AC1C-33A8-439A-A79D-82F954501E5CQ34388211-B8BC548E-1A08-43FF-B8FF-3DF07CAB8F56Q34557274-7FC6845C-E5CE-4C31-B154-2043868C1DDFQ34570015-94AEF938-4A7D-45EB-AEC6-B515767050D7Q34743125-016EE585-DAE9-4AE0-A654-BAD5635B572AQ34743361-28D6DB92-61CB-4F3A-94A7-52B4EFF6A20CQ34988384-8DEC4829-113B-4B75-B24F-F591A03CC38F
P2860
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@ast
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@en
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@nl
type
label
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@ast
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@en
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@nl
prefLabel
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@ast
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@en
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@nl
P2093
P356
P1476
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
@en
P2093
A E Kwitek-Black
D Nishimura
K Elbedour
T Rokhlina
P356
10.1093/HMG/4.1.9
P407
P577
1995-01-01T00:00:00Z