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The role of chondrocyte primary cilia in osteoarthritis

Osteoarthritis and cartilage, 2016-04, Vol.24, p.S336-S336

2016

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120 PREMATURE OSTEOARTHRITIS IN THE TEMPOROMANDIBULAR AND KNEE JOINTS OF BARDET-BIEDLE SYNDROME MICE

Osteoarthritis and cartilage, 2011-09, Vol.19, p.S62-S62

2011

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A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Cell, 2007-06, Vol.129 (6), p.1201-1213

2007

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A Comprehensive Human Linkage Map with Centimorgan Density

Science (American Association for the Advancement of Science), 1994-09, Vol.265 (5181), p.2049-2054

1994

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Nature genetics, 1995-09, Vol.11 (1), p.27-32

1995

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Integrated human genome-wide maps constructed using the CEPH reference panel

Nature genetics, 1994-04, Vol.6 (4), p.391-393

1994

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Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint

Human molecular genetics, 1997-09, Vol.6 (9), p.1491-1497

1997

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The role of COMT V158M polymorphism on WCST performance and frontal lobe morphology in schizophrenia

Schizophrenia research, 2003-03, Vol.60 (1), p.82-82

2003

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Identification of a Germ-Line Mutation in the p53 Gene in a Patient with an Intracranial Ependymoma

Proceedings of the National Academy of Sciences - PNAS, 1991-09, Vol.88 (17), p.7825-7829

1991

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Missense variations in the fibulin 5 gene and age-related macular degeneration

American journal of ophthalmology, 2004-10, Vol.138 (4), p.702-703

2004

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

Gene, 2000-04, Vol.246 (1), p.265-274

2000

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Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1)

Gene, 1999-11, Vol.240 (1), p.227-232

1999

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A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Human molecular genetics, 1993-05, Vol.2 (5), p.601-603

1993

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DFNB11

Advances in oto-rhino-laryngology, 2000, Vol.56, p.168-170

2000

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Chromosomal Assignment of 2900 Tri- and Tetranucleotide Repeat Markers Using NIGMS Somatic Cell Hybrid Panel 2

Genomics (San Diego, Calif.), 1996-02, Vol.32 (1), p.15-20

1996

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A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Human molecular genetics, 1993-08, Vol.2 (8), p.1347-1347

1993

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Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR

Human molecular genetics, 1993-11, Vol.2 (11), p.1983-1983

1993

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A user-friendly Hypercard interface for human linkage analysis

Bioinformatics, 1993-12, Vol.9 (6), p.757-759

1993

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Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1

American journal of human genetics, 1994, Vol.54 (1), p.95-103

1994

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

American journal of medical genetics, 1995-11, Vol.59 (2), p.199-203

1995

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Impaired energy metabolism as an initial step in the mechanism for 6-aminonicotinamide-induced limb malformation

Development (Cambridge), 1980-10, Vol.59 (1), p.217-222

1980

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Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

American journal of medical genetics, 2000-01, Vol.90 (2), p.165-168

2000

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A study of techniques of preparation of formulas for infant feeding

The Journal of pediatrics, 1962-10, Vol.61 (4), p.547-555

1962

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The role of chondrocyte primary cilia in osteoarthritis

120 PREMATURE OSTEOARTHRITIS IN THE TEMPOROMANDIBULAR AND KNEE JOINTS OF BARDET-BIEDLE SYNDROME MICE

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

A Comprehensive Human Linkage Map with Centimorgan Density

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Integrated human genome-wide maps constructed using the CEPH reference panel

Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint

The role of COMT V158M polymorphism on WCST performance and frontal lobe morphology in schizophrenia

Identification of a Germ-Line Mutation in the p53 Gene in a Patient with an Intracranial Ependymoma

Missense variations in the fibulin 5 gene and age-related macular degeneration

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

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1)

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

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

DFNB11

Chromosomal Assignment of 2900 Tri- and Tetranucleotide Repeat Markers Using NIGMS Somatic Cell Hybrid Panel 2

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR

A user-friendly Hypercard interface for human linkage analysis

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1

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

Impaired energy metabolism as an initial step in the mechanism for 6-aminonicotinamide-induced limb malformation

Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

A study of techniques of preparation of formulas for infant feeding

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