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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

American journal of human genetics, 2005-08, Vol.77 (2), p.205-218

2005

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Neuromuscular disorders : NMD, 2003-02, Vol.13 (2), p.151-157

2003

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Brachydactyly and mental retardation : an albright hereditary osteodystrophy-like syndrome localized to 2q37

American journal of human genetics, 1995-02, Vol.56 (2), p.400-407

1995

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390-395

2006

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Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations

Journal of pediatric endocrinology & metabolism : JPEM, 2007-08, Vol.20 (8), p.893

2007

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Oncotarget, 2011-12, Vol.2 (12), p.1127-1133

2011

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

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A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

Journal of medical genetics, 1997-03, Vol.34 (3), p.207-212

1997

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The Rising Incidence of Terminal 11Q Deletion?

Pediatric research, 2011-11, Vol.70, p.418-418

2011

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A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy

The New England journal of medicine, 1989-05, Vol.320 (20), p.1331

1989

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Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.9-12

1993

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Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

Human genetics, 2000-04, Vol.106 (4), p.432-439

2000

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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Journal of medical genetics, 1988-01, Vol.25 (1), p.47-51

1988

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Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity

American journal of human genetics, 1993-09, Vol.53 (3), p.760-767

1993

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Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

Human genetics, 1999-11, Vol.105 (5), p.384-387

1999

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Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

Journal of medical genetics, 2000-11, Vol.37 (11), p.e33-33

2000

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A reappraisal of the CHARGE association

Journal of medical genetics, 1988-03, Vol.25 (3), p.147-156

1988

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Lacrimal outflow dysgenesis

Ophthalmology (Rochester, Minn.), 2004-09, Vol.111 (9), p.1782-1790

2004

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Hyperbaric Oxygen Therapy in Managing Minimally Invasive Aesthetic Procedure Complications: A Report of Three Cases

Clinical, cosmetic and investigational dermatology, 2022-01, Vol.15, p.63-68

2022

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FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13)

Journal of medical genetics, 1996-01, Vol.33 (1), p.66-68

1996

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Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion

Clinical dysmorphology, 2000-10, Vol.9 (4), p.235-239

2000

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Hyperbaric Oxygen Therapy for Reconstructive Urology Wounds: A Case Series

Research and reports in urology, 2021-01, Vol.13, p.841-852

2021

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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Human molecular genetics, 1992-11, Vol.1 (8), p.579-585

1992

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Management of myogenic ptosis

Ophthalmology (Rochester, Minn.), 2002-05, Vol.109 (5), p.1023-1031

2002

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Femoral hypoplasia unusual facies syndrome with preaxial polydactyly

Clinical dysmorphology, 1994-01, Vol.3 (1), p.40-45

1994

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Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Brachydactyly and mental retardation : an albright hereditary osteodystrophy-like syndrome localized to 2q37

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

The Rising Incidence of Terminal 11Q Deletion?

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy

Evidence for Locus Heterogeneity in Autosomal Dominant Torsion Dystonia

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families : linkage and loss of heterozygosity

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

A reappraisal of the CHARGE association

Lacrimal outflow dysgenesis

Hyperbaric Oxygen Therapy in Managing Minimally Invasive Aesthetic Procedure Complications: A Report of Three Cases

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13)

Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion

Hyperbaric Oxygen Therapy for Reconstructive Urology Wounds: A Case Series

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Management of myogenic ptosis

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly

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