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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.402-408

2006

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The natural history of OPA1-related autosomal dominant optic atrophy

British journal of ophthalmology, 2008-10, Vol.92 (10), p.1333-1336

2008

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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Human molecular genetics, 2001-06, Vol.10 (13), p.1369-1378

2001

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190

2008

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The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2

Cilia (London), 2015-07, Vol.4 (S1), p.P40-P40, Article P40

2015

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

American journal of human genetics, 2012-09, Vol.91 (3), p.527-532

2012

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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

Journal of medical genetics, 2002-08, Vol.39 (8), p.e47-47

2002

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The role of the Met98Lys optineurin variant in inherited optic nerve diseases

British journal of ophthalmology, 2006-11, Vol.90 (11), p.1420-1424

2006

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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

American journal of human genetics, 2004-04, Vol.74 (4), p.721-730

2004

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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

American journal of human genetics, 2002-07, Vol.71 (1), p.136-142

2002

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Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer

International journal of cancer, 1999-01, Vol.80 (1), p.25-31

1999

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature genetics, 1999-12, Vol.23 (4), p.421-424

1999

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CORD9 a New Locus for arCRD: Mapping to 8p11, Estimation of Frequency, Evaluation of a Candidate Gene

Investigative ophthalmology & visual science, 2001-10, Vol.42 (11), p.2458-2465

2001

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Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

BMC biotechnology, 2003-10, Vol.3 (1), p.18-18

2003

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Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

British journal of dermatology (1951), 2004-12, Vol.151 (6), p.1261-1265

2004

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Refinement of a Translocation Breakpoint Associated with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome to a 280-kb Interval at Chromosome 3q23

Genomics (San Diego, Calif.), 1998-11, Vol.53 (3), p.308-314

1998

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Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy

Investigative ophthalmology & visual science, 2004-07, Vol.45 (7), p.2083-2090

2004

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Importance of molecular testing in dominant optic atrophy

British journal of ophthalmology, 2002-11, Vol.86 (11), p.1314-1315

2002

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Changing the status quo bias

British journal of ophthalmology, 2011-07, Vol.95 (7), p.1034-1034

2011

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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Human molecular genetics, 2001-06, Vol.10 (13), p.1369-1378

2001

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Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

Human molecular genetics, 1995-05, Vol.4 (5), p.963-967

1995

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Loss of CSMD1 disrupts mammary epithelial morphogenesis

Breast cancer research : BCR, 2010-05, Vol.12 (Suppl 1), p.P9-P9, Article P9

2010

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The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

Genes chromosomes & cancer, 2003-06, Vol.37 (2), p.132-140

2003

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Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

British journal of ophthalmology, 2005-02, Vol.89 (2), p.194-197

2005

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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

The natural history of OPA1-related autosomal dominant optic atrophy

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

CORD9 a New Locus for arCRD: Mapping to 8p11, Estimation of Frequency, Evaluation of a Candidate Gene

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

Coinheritance of two rare genodermatoses (Papillon–Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

Refinement of a Translocation Breakpoint Associated with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome to a 280-kb Interval at Chromosome 3q23

Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy

Importance of molecular testing in dominant optic atrophy

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis

Changing the status quo bias

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

Loss of CSMD1 disrupts mammary epithelial morphogenesis

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

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