Publications by authors named "Gabriele Richard"

75Publications

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Am J Med Genet A 2018 11 5;176(11):2451-2455. Epub 2018 Oct 5.

Division of Dermatology, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.40485DOI Listing
November 2018

Considering the Benefits and Risks of Research Participants' Access to Sequence Data.

Genet Test Mol Biomarkers 2017 Dec 18;21(12):717-721. Epub 2017 Oct 18.

2 GeneDx, Inc. , Gaithersburg, Maryland.

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http://dx.doi.org/10.1089/gtmb.2017.0143DOI Listing
December 2017

Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.

Pediatr Dermatol 2017 Sep 21;34(5):e245-e248. Epub 2017 Jul 21.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.

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http://dx.doi.org/10.1111/pde.13227DOI Listing
September 2017

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

J Genet Couns 2016 Apr 19;25(2):337-43. Epub 2015 Aug 19.

Center for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA.

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http://dx.doi.org/10.1007/s10897-015-9876-yDOI Listing
April 2016

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Genet Test Mol Biomarkers 2013 Jul 30;17(7):553-61. Epub 2013 Apr 30.

Department of Pediatrics, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1089/gtmb.2012.0118DOI Listing
July 2013

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.

Am J Med Genet A 2011 Oct;155A(10):2538-42

Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34198DOI Listing
October 2011

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Mol Genet Metab 2011 Nov 30;104(3):356-61. Epub 2011 May 30.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196763PMC
November 2011

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Hum Mutat 2009 Sep;30(9):1267-77

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.

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http://dx.doi.org/10.1002/humu.21059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784950PMC
September 2009

GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity.

Biochim Biophys Acta 2009 Jan 11;1792(1):61-7. Epub 2008 Oct 11.

Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1016/j.bbadis.2008.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169302PMC
January 2009

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

Pediatr Dermatol 2008 Sep-Oct;25(5):535-40

Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1111/j.1525-1470.2008.00767.xDOI Listing
February 2009

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.

Arch Dermatol 2008 Mar;144(3):351-6

Pediatric/Adolescent Dermatology, Specially for Children, 1301 Barbara Jordan Blvd, Ste 200, Austin, TX 78723, USA.

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http://dx.doi.org/10.1001/archderm.144.3.351DOI Listing
March 2008

Gap junctions: basic structure and function.

J Invest Dermatol 2007 Nov;127(11):2516-24

1Program in Genetics, Stony Brook University, Stony Brook, New York, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153318
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http://dx.doi.org/10.1038/sj.jid.5700770DOI Listing
November 2007

Topical tacrolimus treatment for chronic dermatitis of the ear.

Eur J Dermatol 2007 Sep-Oct;17(5):405-11. Epub 2007 Aug 2.

Clinic for skin diseases, Vivantes Klinikum Berlin Friedrichshain, Department of Dermatology and Phlebology, Landsberger Allee 49, 10249 Berlin, Germany.

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http://dx.doi.org/10.1684/ejd.2007.0238DOI Listing
January 2008

Diseases of epidermal keratins and their linker proteins.

Exp Cell Res 2007 Jun 24;313(10):1995-2009. Epub 2007 Apr 24.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1016/j.yexcr.2007.03.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2578874PMC
June 2007

Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.

Am J Physiol Cell Physiol 2007 Jul 11;293(1):C337-45. Epub 2007 Apr 11.

Dept. of Physiology and Biophysics, State University of New York, T5-147, Basic Science Tower, Stony Brook, NY 11794-8661, USA.

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http://dx.doi.org/10.1152/ajpcell.00626.2006DOI Listing
July 2007

Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients.

Am J Med Genet A 2007 Apr;143A(7):734-41

Department of Otolaryngology, Head and Neck Surgery, Kaiser Permanente, Oakland, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.31635DOI Listing
April 2007

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?

Am J Med Genet A 2006 Dec;140(24):2709-13

Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.31543
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http://dx.doi.org/10.1002/ajmg.a.31543DOI Listing
December 2006

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.

Laryngoscope 2006 Aug;116(8):1404-8

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/01.mlg.0000224549.75161.caDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563154PMC
August 2006

A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

Eur J Dermatol 2006 May-Jun;16(3):241-5

Department of Dermatology, Lehigh Valley Hospital, Allentown, Pennsylvania, USA.

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December 2006

Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.

Eur J Dermatol 2006 Mar-Apr;16(2):132-5

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA, and Department of Clinical Genetics, Helsinki University Central Hospital, Finland.

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November 2006

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

Proc Natl Acad Sci U S A 2006 Mar 20;103(13):5213-8. Epub 2006 Mar 20.

Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1073/pnas.0511091103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1458820PMC
March 2006

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.

J Invest Dermatol 2006 Jan;126(1):79-84

Department of Dermatology and Cutaneous Biology, The Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/sj.jid.5700025DOI Listing
January 2006

Consequences of depleted SERCA2-gated calcium stores in the skin.

J Invest Dermatol 2006 Apr;126(4):721-31

Vetsuisse Faculty, Institute of Animal Pathology, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1038/sj.jid.5700091DOI Listing
April 2006

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

Dermatology 2005 ;210(4):308-14

Department of Dermatology, Columbia University Medical Center, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1159/000084755DOI Listing
October 2005

In vivo and in vitro expression of connexins in the human corneal epithelium.

Invest Ophthalmol Vis Sci 2005 Jun;46(6):1957-65

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1167/iovs.04-1364DOI Listing
June 2005

Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis.

Am J Dermatopathol 2005 Jun;27(3):211-5

Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1097/01.dad.0000158298.02545.a5DOI Listing
June 2005

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

Eur J Dermatol 2005 Mar-Apr;15(2):75-9

Department of Medical Genetics and Child Development, University Medical School of Pécs, József A. u. 7, Pécs 7623, Hungary.

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June 2005

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.

Clin Dermatol 2005 Jan-Feb;23(1):33-40

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1016/j.clindermatol.2004.09.015DOI Listing
June 2005

Connexin disorders of the skin.

Authors:
Gabriele Richard

Clin Dermatol 2005 Jan-Feb;23(1):23-32

Department of Dermatology and Cutaneous Biology and the Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0738081X0400176
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http://dx.doi.org/10.1016/j.clindermatol.2004.09.010DOI Listing
June 2005

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

J Mol Med (Berl) 2005 Jan 15;83(1):33-8. Epub 2004 Dec 15.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00109-004-0610-8DOI Listing
January 2005

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

J Invest Dermatol 2004 Nov;123(5):856-63

Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1532022
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http://dx.doi.org/10.1111/j.0022-202X.2004.23470.xDOI Listing
November 2004

Progress in epidermolysis bullosa: genetic classification and clinical implications.

Am J Med Genet C Semin Med Genet 2004 Nov;131C(1):61-74

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1002/ajmg.c.30035DOI Listing
November 2004

Molecular genetics of the ichthyoses.

Authors:
Gabriele Richard

Am J Med Genet C Semin Med Genet 2004 Nov;131C(1):32-44

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1002/ajmg.c.30032DOI Listing
November 2004

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

J Invest Dermatol 2004 May;122(5):1108-13

Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/j.0022-202X.2004.22518.xDOI Listing
May 2004

Type 1 segmental manifestation of Hailey-Hailey disease.

J Am Acad Dermatol 2003 Oct;49(4):712-4

Department of Dermatology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1067/s0190-9622(03)00847-8DOI Listing
October 2003

Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43.

J Cell Sci 2003 Aug;116(Pt 15):3189-201

Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1242/jcs.00604DOI Listing
August 2003

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

J Invest Dermatol 2003 Apr;120(4):601-9

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1046/j.1523-1747.2003.12080.xDOI Listing
April 2003

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.

J Invest Dermatol 2002 Nov;119(5):1210-3

Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1046/j.1523-1747.2002.19528.xDOI Listing
November 2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

J Invest Dermatol 2002 Sep;119(3):692-8

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1541780
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http://dx.doi.org/10.1046/j.1523-1747.2002.01855.xDOI Listing
September 2002

Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.

Biochem Biophys Res Commun 2002 Aug;296(3):721-8

Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany.

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http://dx.doi.org/10.1016/s0006-291x(02)00929-4DOI Listing
August 2002

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

J Am Acad Dermatol 2002 Apr;46(4):510-6

Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.1067/mjd.2002.119673DOI Listing
April 2002