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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Journal of medical genetics, 2002-03, Vol.39 (3), p.217-221

Sybert, V P

2002

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Cardiovascular malformations and complications in Turner syndrome

Pediatrics (Evanston), 1998-01, Vol.101 (1), p.E11-e11

Sybert, V P

1998

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NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

Human molecular genetics, 2000, Vol.9 (1), p.35-46

2000

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The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

Journal of medical genetics, 2001-01, Vol.38 (1), p.52-58

2001

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Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1

American journal of human genetics, 1998-12, Vol.63 (6), p.1757-1766

1998

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Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

American journal of human genetics, 1999-03, Vol.64 (3), p.732-738

1999

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Hypomelanosis of Ito: A Description, Not a Diagnosis

Journal of investigative dermatology, 1994-11, Vol.103 (5), p.S141-S143

Sybert, Virginia P

1994

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Prevalence of hypopigmented macules in a healthy population

The Journal of pediatrics, 1996-09, Vol.129 (3), p.355-361

1996

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Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients

Journal of investigative dermatology, 1997-03, Vol.108 (3), p.349-353

1997

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Psychosocial and sexual functioning in women with Turner syndrome

Clinical genetics, 1995-02, Vol.47 (2), p.85-89

1995

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Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X : implications for postnatal outcome

American journal of human genetics, 1995-09, Vol.57 (3), p.661-666

1995

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Incontinentia pigmenti nomenclature

American journal of human genetics, 1994-07, Vol.55 (1), p.209-211

Sybert, V P

1994

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Turner's Syndrome

The New England journal of medicine, 2004-09, Vol.351 (12), p.1227-1238

2004

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Ichthyosis Vulgaris: Identification of a Defect in Synthesis of Filaggrin Correlated with an Absence of Keratohyaline Granules

Journal of investigative dermatology, 1985-03, Vol.84 (3), p.191-194

1985

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Cimetidine therapy for multiple viral warts in children

Journal of the American Academy of Dermatology, 1996-08, Vol.35 (2), p.271-272

1996

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A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

Journal of investigative dermatology, 1993-08, Vol.101 (2), p.240-243

1993

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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Human genetics, 1992, Vol.88 (3), p.279-282

1992

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Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules

Journal of investigative dermatology, 1990-01, Vol.94 (1), p.6-18

1990

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Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

The Journal of pediatrics, 1990-04, Vol.116 (4), p.581-586

1990

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Incontinentia pigmenti

Seminars in cutaneous medicine and surgery, 1997-03, Vol.16 (1), p.54-60

1997

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Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function

American journal of human genetics, 1995-03, Vol.56 (3), p.577-585

1995

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Adult height in Turner syndrome with and without androgen therapy

The Journal of pediatrics, 1984-03, Vol.104 (3), p.365-369

Sybert, V.P.

1984

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A Common Keratin 5 Gene Mutation in Epidermolysis Bullosa Simplex–Weber-Cockayne

Journal of investigative dermatology, 1995-05, Vol.104 (5), p.877-879

1995

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Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

Genetics in medicine, 2003-05, Vol.5 (3), p.154-160

2003

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Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome

Pediatric dermatology, 1998, Vol.15 (1), p.18-22

1998

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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Cardiovascular malformations and complications in Turner syndrome

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1

Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

Hypomelanosis of Ito: A Description, Not a Diagnosis

Prevalence of hypopigmented macules in a healthy population

Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients

Psychosocial and sexual functioning in women with Turner syndrome

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X : implications for postnatal outcome

Incontinentia pigmenti nomenclature

Turner's Syndrome

Ichthyosis Vulgaris: Identification of a Defect in Synthesis of Filaggrin Correlated with an Absence of Keratohyaline Granules

Cimetidine therapy for multiple viral warts in children

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules

Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

Incontinentia pigmenti

Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function

Adult height in Turner syndrome with and without androgen therapy

A Common Keratin 5 Gene Mutation in Epidermolysis Bullosa Simplex–Weber-Cockayne

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome

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