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US Patent Application for Bardet biedl susceptibility gene

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Journal of Medical Geneti

of teeth, and mild micrognathia. Forty out of 45 patients examined by us (89%) had a high arched palate. Asthma ... appears to be a 3-4 fold risk of breast cancer in gene carriers.36 Croft and Swift11have suggested that carriers of a Bardet-Biedl ...

Bardet‐Biedl Syndrome, an Oligogenic Disease | Yangfan Liu | Request P

Request PDF on ResearchGate | Bardet‐Biedl Syndrome, an Oligogenic Disease | Bardet-Biedl syndrome (BBS) is a rare multisystemic disorder characterized by defects in renal function, obesity, mental retardation, retinal degeneration and polydactyly. The ...

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort - Sathya Priya - 2015 - Clinical Genetics - Wiley Online Libra

Bardet–Biedl syndrome (BBS), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency, polydactyly and obesity. In this study, we have performed homozygosity mapping using NspI 250K affymetrix gene ...

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene - ScienceDire

The combination of these three types of data allowed us to select high-priority genes for mutation screening in selected BBS patients. ... LG Biesecker, SG Jacobson, EM Stone, VC SheffieldPositional cloning of a novel gene on chromosome 16q causing Bardet ...

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q3

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet. 1997 Feb; 34 (2):92–98. [PMC free article] [] Bear JC, Nemec TF ...

Bardet-Biedl syndrome: Mapping of a new locus to chromosome 3 and fine-mapping of the chromosome 16 linked locus (Journal Article) | OSTI.G

Abstract Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by mental retardation, post-axial polydactyly, obesity, retinitis pigmentosa, and hypogonadism. Other features of this disease include renal and cardiovascular ...

US Patent Application for Bardet-Biedl susceptibility gene and uses thereof Patent Application (Application #20060205052 issued September 14, 2006 .

The present invention relates to the identification of a gene, now designated negevin (ngvn), that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental ...

rgd.mcw.e

Symbol: Bbs4: Name: Bardet-Biedl syndrome 4: Description: Predicted to have RNA polymerase II repressing transcription factor binding activity; cytoskeletal protein binding activi

WO2002050309A2 - A bardet-biedl susceptibility gene and uses thereof - Google Paten

bardet-biedl susceptibility gene and uses thereof - Google Patents A bardet-biedl susceptibility gene ... WO2002050309A2 PCT/US2001/049350 US0149350W WO0250309A2 WO 2002050309 A2 WO2002050309 A2 WO 2002050309A2 US 0149350 W ...

Genes Associated with Diseases - B - GeneCar

Bard1-Related Susceptibility To Breast Cancer, Breast Cancer, Ovarian Cancer, Breast-Ovarian Cancer, Familial, 1, ... Bardet-Biedl Syndrome 18, Bardet-Biedl Syndrome, Bardet-Biedl Syndrome 1, Bardet-Biedl Syndrome 2, Bardet-Biedl Syndrome 14 ...

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q3

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet. 1997 Feb; 34 (2):92–98. [PMC free article] [] Bear JC, Nemec TF ...

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene: The American Journal of Human Geneti

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene Darryl Y. Nishimura Darryl Y. Nishimura Affiliations Department of Pediatrics, University of Iowa ...

Terry Braun | Department of Ophthalmology and Visual Scienc

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences, 103(16), 6287-6292. PMID: 16606853.00. ...

BARDET-BIEDL SUSCEPTIBILITY GENE AND USES THEREOF - Patent - Europe P

BARDET-BIEDL SUSCEPTIBILITY GENE AND USES THEREOF (PAT - US2011033921) SHEFFIELD VAL, NISHIMURA DARRYL, STONE EDWIN Patent: Patent Appl. Publ. within the TVPP - United States ...

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Ge

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene ... Sheffield VC (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3[] [] ...

Patents and Patent Applications from University of Io

US Patents/Apps Other SEARCH RESEARCH MPEP 2.0 TOOLS & RESOURCES ACCLAIM IP HELP Patents and Patent Applications from University of Iowa Matches 851 - 900 out < Document Title 851 7160727 Methods for producing and using in ...

US Patent # 7,008,782. Bardet-Biedl susceptibility gene and uses thereof - Patents.c

Bardet-Biedl susceptibility gene and uses thereof Abstract The present invention relates to the identification of a gene, now designated negevin (ngvn), that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse ...

Human Molecular Geneti

Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21) Elise Heon Gunhee Kim Sophie Qin Janelle E. Garrison Erika Tavares Ajoy Vincent Nina Nuangchamnong C. Anthony Scott Diane C. Slusarski Val C. Sheffield Human Molecular Geneticshttps://doi ...

Bardet-Biedl Syndrome Gene Variants Are Associated With Both Childhood and Adult Common Obesity in French Caucasians | Diabet

BBS, Bardet-Biedl syndrome MAF, minor allele frequency SNP, single nucleotide polymorphism TDT, transmission disequilibrium test Common obesity is caused by the interaction of many genes and the environment, with each gene variant producing only a ...

Product Overview anti-BBS9 Antibodies - antibodies-online.c

Browse our anti-BBS9 (BBS9) Antibodies Full name: anti-Bardet-Biedl Syndrome 9 Antibodies ... Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. PTHB1 is ...

US Patent Application for Bardet-Biedl susceptibility gene and uses thereof Patent Application (Application #20060134649 issued June 22, 2006 .

The present invention relates to the designation of ADP-ribosylation factor-like 6 as the BBS3 gene, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental ...