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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Nature (London), 1997-05, Vol.387 (6628), p.80-83

1997

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Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

Gut, 2003-04, Vol.52 (4), p.541-546

2003

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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

American journal of human genetics, 1998-08, Vol.63 (2), p.541-546

1998

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

Human mutation, 1998, Vol.11 (5), p.387-394

1998

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A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

American journal of human genetics, 2000-02, Vol.66 (2), p.724-727

2000

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A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

Journal of medical genetics, 2000-09, Vol.37 (9), p.692-694

2000

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Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors

Human molecular genetics, 2002-05, Vol.11 (11), p.1281-1289

2002

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Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Human genetics, 1997-10, Vol.100 (5-6), p.497-502

1997

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Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

American journal of human genetics, 2001-01, Vol.68 (1), p.191-197

2001

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A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

American journal of human genetics, 1999-02, Vol.64 (2), p.526-532

1999

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Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

International journal of pediatric otorhinolaryngology, 1999-10, Vol.50 (1), p.3-13

1999

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A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

Journal of medical genetics, 1997-12, Vol.34 (12), p.1015-1017

1997

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The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

Human molecular genetics, 2003-10, Vol.12 (20), p.2569-2575

2003

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A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

American journal of human genetics, 1998-05, Vol.62 (5), p.1070-1076

1998

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Molecular analysis for genetic counselling in amelogenesis imperfecta

Oral diseases, 2002-09, Vol.8 (5), p.249-253

2002

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A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Nature (London), 1987-04, Vol.326 (6116), p.840-845

1987

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A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

European journal of human genetics : EJHG, 2000-04, Vol.8 (4), p.267-272

2000

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The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2

Human genetics, 1997-04, Vol.99 (4), p.547-549

1997

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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1

Journal of medical genetics, 1997-08, Vol.34 (8), p.685-687

1997

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A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Journal of medical genetics, 2001-08, Vol.38 (8), p.533-536

2001

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Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers

Nucleic acids research, 1996-06, Vol.24 (11), p.2190-2191

1996

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Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

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A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.991-993

2000

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Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

Genomics (San Diego, Calif.), 1991-06, Vol.10 (2), p.301-307

1991

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

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

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-κB transcription factors

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

Molecular analysis for genetic counselling in amelogenesis imperfecta

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

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