K. Elbedour

发表

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13

D. Geiger, M. Fishelson, G. Narkis, 2004, American journal of medical genetics. Part A.

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Thomas L Casavant, Edwin M Stone, Todd E Scheetz, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Edwin M Stone, Val C Sheffield, Annie P. Chiang, 2004, American journal of human genetics.

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.

G. Narkis, D. Landau, E. Manor, 2007, American journal of human genetics.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

B J Keats, V. Sheffield, R. Swiderski, 2000, Gene.

Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

V. Sheffield, M. Lovett, M. Batzer, 1998, Gene.

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

G. Narkis, D. Landau, K. Elbedour, 2013, European Journal of Human Genetics.

HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease.

V. Sheffield, N. Camp, S. Neuhausen, 2002, Human immunology.

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

G. Narkis, K. Elbedour, R. Ofir, 2011, American journal of human genetics.

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

K. Elbedour, R. Carmi, N. Zucker, 1994, American journal of medical genetics.

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

K. Elbedour, R. Carmi, J. Parks, 2000, American journal of medical genetics.

A New Variant of Autosomal Recessive Exfoliative Ichthyosis

A. Zvulunov, K. Elbedour, Z. Shorer, 2002, Pediatric dermatology.

Factors Affecting the Use of Prenatal Testing for Fetal Anomalities in a Traditional Society

K. Elbedour, R. Carmi, I. Shoham-Vardi, 2001, Public Health Genomics.

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

E. Manor, K. Elbedour, O. Birk, 2018, American journal of medical genetics. Part A.

Congenital Glaucoma: CYP1B1 Mutations in Israeli Bedouin Kindreds

K. Elbedour, R. Ofir, R. Carmi, 2010, Journal of glaucoma.

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

K. Elbedour, R. Carmi, C. Srisailapathy, 1998, Human mutation.

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

V. Sheffield, E. Stone, K. Elbedour, 1995, American journal of medical genetics.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Rachel Levy, Rivka Ofir, Ilan Shelef, 2006, American journal of human genetics.

Lowering The Burden of Hereditary Diseases in a Traditional, Inbred Community: Ethical Aspects of Genetic Research and Its Application

V. Sheffield, K. Elbedour, R. Carmi, 1998, Science in Context.

COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)

K. Elbedour, R. Ofir, O. Birk, 2005, American journal of medical genetics. Part A.

A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred

G. Narkis, D. Landau, K. Elbedour, 2003, American journal of medical genetics. Part A.

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Alfonso Baldi, Val C. Sheffield, Edwin M. Stone, 2001, Nature Genetics.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

V. Sheffield, E. Stone, K. Elbedour, 1995, Human molecular genetics.

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

V. Sheffield, E. Stone, K. Elbedour, 1994, Human molecular genetics.

Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity

V. Sheffield, K. Buetow, E. Stone, 1993, Nature Genetics.

Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome

V. Sheffield, E. Stone, C. Westall, 2005, American journal of medical genetics. Part A.

An autosomal genome-wide screen for celiac disease in Bedouin families

S. Neuhausen, K. Elbedour, C. Garner, 2008, Genes and Immunity.

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

V. Sheffield, D. Beier, K. Elbedour, 1998, Human molecular genetics.

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

V. Sheffield, E. Stone, K. Elbedour, 1995, American journal of human genetics.

Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

D. Landau, K. Elbedour, R. Ofir, 2008, American journal of medical genetics. Part A.

Pediatricians' Perspective on the Challenges of Care for Bedouin Children in Southern Israel

K. Elbedour, J. Urkin,, Foad Elsana, 2014 .

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

V. Sheffield, E. Stone, K. Elbedour, 1996, American journal of human genetics.

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

V. Sheffield, E. Stone, S. Patil, 1997, Human molecular genetics.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Annie P. Chiang, V. Sheffield, T. Casavant, 2004, American journal of human genetics.

Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.

G. Narkis, D. Landau, E. Manor, 2007, American journal of human genetics.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie P. Chiang, V. Sheffield, T. Casavant, 2004 .

Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.

V. Sheffield, M. Lovett, C. Morton, 1997, Genome research.