Publications by authors named "Judith Fischer"

100Publications

Verruköse Hyperkeratosen mit Bevorzugung der linken Körperseite und begleitender Onychodystrophie zweier Finger bei einem 17-jährigen Mädchen.

J Dtsch Dermatol Ges 2020 Sep;18(9):1054-1057

Klinik für Dermatologie und Allergologie, Fachklinik Bad Bentheim.

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http://dx.doi.org/10.1111/ddg.14141_gDOI Listing
September 2020

Neonatal presentation of COG6-CDG with prominent skin phenotype.

JIMD Rep 2020 Sep 7;55(1):51-58. Epub 2020 Aug 7.

Institute of Human Genetics, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany.

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http://dx.doi.org/10.1002/jmd2.12154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463048PMC
September 2020

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in .

J Med Genet 2020 Aug 17. Epub 2020 Aug 17.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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http://dx.doi.org/10.1136/jmedgenet-2019-106564DOI Listing
August 2020

Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle.

Acta Derm Venereol 2020 Aug 18;100(15):adv00241. Epub 2020 Aug 18.

Department of Dermatology and Allergy, University of Munich LMU, DE-80337 Munich, Germany. E-mail:

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http://dx.doi.org/10.2340/00015555-3599DOI Listing
August 2020

Schmerzhafte Hautschwellung nach Wasserkontakt.

J Dtsch Dermatol Ges 2020 Jul;18(7):764-768

Klinik für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen.

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http://dx.doi.org/10.1111/ddg.14098_gDOI Listing
July 2020

Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz.

Acta Derm Venereol 2020 Jul 28;100(14):adv00223. Epub 2020 Jul 28.

Department of Dermatology and Allergy, Charité, Universitätsmedizin Berlin, DE-10117 Berlin, Germany. E-mail:

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http://dx.doi.org/10.2340/00015555-3592DOI Listing
July 2020

Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl.

J Dtsch Dermatol Ges 2020 09 8;18(9):1054-1057. Epub 2020 Jun 8.

Department of Dermatology and Allergology, Bad Bentheim Medical Center, Bad Bentheim, Germany.

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http://dx.doi.org/10.1111/ddg.14141DOI Listing
September 2020

Painful skin swelling after water contact.

J Dtsch Dermatol Ges 2020 Jul 30;18(7):764-768. Epub 2020 Apr 30.

Department of Dermatology, Venereology und Allergology, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1111/ddg.14098DOI Listing
July 2020

Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.

Mol Genet Genomics 2020 Jul 6;295(4):1039-1053. Epub 2020 Apr 6.

School of Biology, University College of Science, University of Tehran, Tehran, Iran.

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http://dx.doi.org/10.1007/s00438-020-01663-zDOI Listing
July 2020

Genetics of Inherited Ichthyoses and Related Diseases.

Acta Derm Venereol 2020 Mar 25;100(7):adv00096. Epub 2020 Mar 25.

Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-3432DOI Listing
March 2020

A Family with Palmar and Plantar Hyperkeratosis: A Quiz.

Acta Derm Venereol 2020 Feb 27;100(4):adv00064. Epub 2020 Feb 27.

Department of Dermatology and Allergology, Philipp University, DE-35043 Marburg, Germany.

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http://dx.doi.org/10.2340/00015555-3419DOI Listing
February 2020

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

Matrix Biol 2019 10 11;83:48-59. Epub 2019 Jul 11.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.07.002DOI Listing
October 2019

[Syndromes with scales and keratosis].

Authors:
Judith Fischer

Hautarzt 2019 Jul;70(7):497-505

Institut für Humangenetik, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Breisacher Str. 33, 79106, Freiburg i. Br., Deutschland.

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http://dx.doi.org/10.1007/s00105-019-4417-5DOI Listing
July 2019

A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.

J Invest Dermatol 2019 10 11;139(10):2154-2163.e5. Epub 2019 May 11.

Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.04.015DOI Listing
October 2019

Neue Therapieansätze für entzündliche und bullöse Formen kongenitaler Ichthyosen: erste klinische Erfahrungen.

J Dtsch Dermatol Ges 2019 May;17 Suppl 2:12-15

Klinik für Hautkrankheiten, Universitätsklinikum Münster, Deutschland.

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http://dx.doi.org/10.1111/ddg.13782DOI Listing
May 2019

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel Mutation.

Front Neurol 2018 9;9:1168. Epub 2019 Jan 9.

Department of Neurology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.3389/fneur.2018.01168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334619PMC
January 2019

Biologika-Therapie mit Anti-IL-17A-Antikörper verbessert kongenitale ichthyosiforme Verhornungsstörung.

J Dtsch Dermatol Ges 2019 Jan;17(1):70-72

Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg.

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http://dx.doi.org/10.1111/ddg.13716_gDOI Listing
January 2019

Biologic therapy targeting IL-17 ameliorates a case of congenital ichthyosiform cornification disorder.

J Dtsch Dermatol Ges 2019 Jan 3;17(1):70-72. Epub 2018 Dec 3.

Department of Dermatology, Medical Center - Faculty of Medicine, University of Freiburg, Germany.

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http://dx.doi.org/10.1111/ddg.13716DOI Listing
January 2019

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Pigment Cell Melanoma Res 2019 01 6;32(1):85-91. Epub 2018 Sep 6.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12733DOI Listing
January 2019

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hum Mutat 2018 10 7;39(10):1305-1313. Epub 2018 Aug 7.

Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/humu.23594DOI Listing
October 2018

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.

Exp Dermatol 2019 10 28;28(10):1146-1152. Epub 2018 Jun 28.

Faculty of Medicine, Department of Human Genetics, Medical Center, University of Freiburg, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1111/exd.13668DOI Listing
October 2019

Alitretinoin reduces erythema in inherited ichthyosis.

Orphanet J Rare Dis 2018 04 4;13(1):46. Epub 2018 Apr 4.

Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Larrey, Paul Sabatier University, 24, Chemin de Pouvourville, 31400, Toulouse, Cedex 09, France.

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http://dx.doi.org/10.1186/s13023-018-0783-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885373PMC
April 2018

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

Acta Derm Venereol 2018 Apr;98(4):437-440

Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstrasse 7, DE-79104 Freiburg, Germany,

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http://dx.doi.org/10.2340/00015555-2863DOI Listing
April 2018

Ichthyosis with Confetti Inherited from a Mosaic Father.

Acta Derm Venereol 2018 01;98(1):130-131

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.

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http://dx.doi.org/10.2340/00015555-2776DOI Listing
January 2018

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Am J Clin Dermatol 2018 Feb;19(1):51-66

Department of Medical Sciences, Dermatology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s40257-017-0313-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797567PMC
February 2018

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

Am J Hum Genet 2017 Jun;100(6):926-939

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473727PMC
June 2017

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Mov Disord 2017 03 21;32(3):478-480. Epub 2016 Nov 21.

Department of Neurology, Freiburg University Medical Center and Medical Faculty, Freiburg University, Freiburg, Germany.

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http://dx.doi.org/10.1002/mds.26876DOI Listing
March 2017

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

Acta Derm Venereol 2017 01;97(1):102-104

Institute of Human Genetics, University Medical Center Freiburg, 79106 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-2510DOI Listing
January 2017

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Am J Hum Genet 2016 08 28;99(2):430-6. Epub 2016 Jul 28.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974070PMC
August 2016

HPTLC-aptastaining - Innovative protein detection system for high-performance thin-layer chromatography.

Sci Rep 2016 05 25;6:26665. Epub 2016 May 25.

University of Hamburg, Hamburg School of Food Science, Institute of Food Chemistry, Grindelallee 117, D-20146 Hamburg.

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http://dx.doi.org/10.1038/srep26665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879557PMC
May 2016

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta Derm Venereol 2016 Nov;96(7):932-937

Department of Immunology, Genetics and Pathology, Clinical Genetics, University Hospital, Uppsala University, SE-751 85 Uppsala, Sweden.

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https://www.medicaljournals.se/acta/content/abstract/10.2340
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http://dx.doi.org/10.2340/00015555-2418DOI Listing
November 2016

Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome.

Mol Syndromol 2016 Feb 16;6(5):222-8. Epub 2016 Jan 16.

Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1159/000443343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772713PMC
February 2016

Linear Scars in a 4-Week-Old Girl.

JAMA Dermatol 2016 Feb;152(2):209-10

Department of Dermatology and Venereology, University of Cologne, Kerpenerstr 62, 50937 Köln, Germany.

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http://dx.doi.org/10.1001/jamadermatol.2015.4191DOI Listing
February 2016

Spiritual Coping: A Gateway to Enhancing Family Communication During Cancer Treatment.

J Relig Health 2016 Feb;55(1):269-287

Western Michigan University, Kalamazoo, MI, USA.

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http://dx.doi.org/10.1007/s10943-015-0108-4DOI Listing
February 2016

The role of natural disaster in individual and relational adjustment in Sri Lankan mothers following the 2004 tsunami.

Disasters 2016 Jan 13;40(1):134-57. Epub 2015 Aug 13.

PhD is Associate Professor at Texas Tech University, United States.

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http://doi.wiley.com/10.1111/disa.12137
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http://dx.doi.org/10.1111/disa.12137DOI Listing
January 2016

Do episodic self- and partner-uncertainty mediate the association between attachment orientations and emotional responses to relationship-threatening events in dating couples?

Cogn Emot 2016 09 20;30(6):1232-45. Epub 2015 Jul 20.

b Military Family Research Institute, Purdue University , West Lafayette , IN , USA.

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http://dx.doi.org/10.1080/02699931.2015.1050999DOI Listing
September 2016

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Acta Derm Venereol 2015 Nov;95(8):1007-8

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.2340/00015555-2143DOI Listing
November 2015

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.

Neurology 2015 Apr 20;84(15):1605-6. Epub 2015 Mar 20.

From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001470DOI Listing
April 2015

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.

Clin Dysmorphol 2015 Jul;24(3):115-7

Departments of aMedical Genetics bPediatrics, Faculty of Medicine, Trakya University, Edirne, Turkey cInstitute of Human Genetics, Freiburg, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000071DOI Listing
July 2015

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

J Allergy Clin Immunol 2015 Jan 11;135(1):280-3. Epub 2014 Nov 11.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.09.042DOI Listing
January 2015

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.

JAMA Dermatol 2015 Jan;151(1):64-9

Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.

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http://dx.doi.org/10.1001/jamadermatol.2014.2526DOI Listing
January 2015

Young adult drinking partnerships: alcohol-related consequences and relationship problems six years later.

J Stud Alcohol Drugs 2014 Jul;75(4):704-12

Department of Human Development and Family Studies, Texas Tech University, Lubbock, Texas.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108609PMC
http://dx.doi.org/10.15288/jsad.2014.75.704DOI Listing
July 2014

MRI evidence for preserved regulation of intracranial pressure in patients with cerebral arteriovenous malformations.

Eur J Radiol 2014 Aug 16;83(8):1442-7. Epub 2014 May 16.

Institute for Clinical Radiology, Ludwig-Maximilians-University Hospital, Marchioninistr. 15, 81377 Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2014.05.011DOI Listing
August 2014

Ichthyosis prematurity syndrome: a case report and review of known mutations.

Pediatr Dermatol 2014 Jul-Aug;31(4):517-8. Epub 2014 May 29.

Department of Paediatric Dermatology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/pde.12320DOI Listing
May 2015

Nonsyndromic types of ichthyoses - an update.

J Dtsch Dermatol Ges 2014 Feb 11;12(2):109-21. Epub 2013 Oct 11.

Department of Dermatology, University of Münster, Germany.

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http://dx.doi.org/10.1111/ddg.12229DOI Listing
February 2014

The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network.

Cell Stem Cell 2013 Oct 8;13(4):403-18. Epub 2013 Aug 8.

Institute for Stem Cell Research, Helmholtz Centre Munich German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany; Physiological Genomics, Medical Faculty, University of Munich, Schillerstrasse 46, 80633 Munich, Germany.

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http://dx.doi.org/10.1016/j.stem.2013.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098720PMC
October 2013

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function.

Biochim Biophys Acta 2014 Mar 6;1841(3):409-15. Epub 2013 Aug 6.

Institute for Human Genetics, University Medical Center Freiburg, Freiburg 79106, Germany.

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http://dx.doi.org/10.1016/j.bbalip.2013.07.013DOI Listing
March 2014

Oligodendrogliogenic and neurogenic adult subependymal zone neural stem cells constitute distinct lineages and exhibit differential responsiveness to Wnt signalling.

Nat Cell Biol 2013 Jun 5;15(6):602-13. Epub 2013 May 5.

Department of Physiological Genomics, Institute of Physiology, Ludwig-Maximilians University Munich, Munich, Germany.

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http://dx.doi.org/10.1038/ncb2736DOI Listing
June 2013

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Eur J Hum Genet 2013 Aug 12;21(8):807-15. Epub 2012 Dec 12.

Department of Internal Medicine, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722672PMC
August 2013

Tyrosinemia Type III detected via neonatal screening: management and outcome.

Mol Genet Metab 2012 Nov 7;107(3):605-7. Epub 2012 Sep 7.

Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, B-1200 Bruxelles, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.002DOI Listing
November 2012

The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.

J Invest Dermatol 2012 Oct 24;132(10):2368-2375. Epub 2012 May 24.

Department of Medical Sciences, Dermatology and Venereology, Uppsala University, Uppsala, Sweden. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1535473
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http://dx.doi.org/10.1038/jid.2012.160DOI Listing
October 2012

Romantic relationships and alcohol use.

Curr Drug Abuse Rev 2012 Jun;5(2):98-116

Department of Human Development and Family Studies, Texas Tech University, Lubbock, TX 79409, USA.

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http://dx.doi.org/10.2174/1874473711205020098DOI Listing
June 2012

Prospective isolation of adult neural stem cells from the mouse subependymal zone.

Nat Protoc 2011 Nov 17;6(12):1981-9. Epub 2011 Nov 17.

Helmholtz Center Munich, German Research Center for Environmental Health, Institute for Stem Cell Research, Neuherberg, Germany.

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http://dx.doi.org/10.1038/nprot.2011.412DOI Listing
November 2011

Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Hum Mutat 2011 Nov 20;32(11):1204-12. Epub 2011 Sep 20.

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/humu.21576DOI Listing
November 2011

How to evaluate physical fitness without a stress test?

Int J Cardiovasc Imaging 2012 Jan 9;28(1):199-209. Epub 2010 Dec 9.

Cardiology Department, University Hospital Basel, Petersgraben 4, 4031, Basel, Switzerland.

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http://dx.doi.org/10.1007/s10554-010-9763-4DOI Listing
January 2012

Psychosocial needs of ethnic minority, inner-city, pediatric cancer patients.

Support Care Cancer 2011 Sep 12;19(9):1403-10. Epub 2010 Sep 12.

Children's Hospital at Montefiore, Department of Pediatric Hematology/Oncology, Bronx, NY 10467, USA.

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http://dx.doi.org/10.1007/s00520-010-0966-yDOI Listing
September 2011

Intimate Partner Violence in Young Adult Dating, Cohabitating, and Married Drinking Partnerships.

J Marriage Fam 2010 Apr;72(2):360-374

The Prevention and Methodology Centers, The Pennsylvania State University, University Park, PA 16802,

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http://dx.doi.org/10.1111/j.1741-3737.2010.00705.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880837PMC
April 2010

Tracing the origin of L-2-hydroxyglutaric aciduria in a family.

Int J Neurosci 2009 ;119(11):2118-23

Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany.

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http://dx.doi.org/10.1080/00207450903139655DOI Listing
January 2010

Autosomal recessive congenital ichthyosis.

Authors:
Judith Fischer

J Invest Dermatol 2009 Jun;129(6):1319-21

CEA, Institut de Génomique, Centre National de Génotypage, Dermatologic Diseases, Evry, France.

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http://dx.doi.org/10.1038/jid.2009.57DOI Listing
June 2009

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

J Invest Dermatol 2008 Jun 10;128(6):1442-50. Epub 2008 Jan 10.

Institut de Biologie et de Chimie des Protéines, Centre National de la Recherche Scientifique, Université Lyon 1, Institut Fédératif de Recherches 128, Lyon, France.

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http://dx.doi.org/10.1038/sj.jid.5701211DOI Listing
June 2008

[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].

Med Sci (Paris) 2007 Jun-Jul;23(6-7):575-8

CNG, Centre National de Génotypage, 2, rue Gaston-Crémieux CP 5721, 91057 Evry Cedex, France.

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http://dx.doi.org/10.1051/medsci/20072367575DOI Listing
September 2007

Heritability and tissue specificity of expression quantitative trait loci.

PLoS Genet 2006 Oct 28;2(10):e172. Epub 2006 Aug 28.

Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.0020172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1617131PMC
October 2006

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Hum Mol Genet 2006 Mar 25;15(5):767-76. Epub 2006 Jan 25.

Centre National de Génotypage, Evry, France.

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http://dx.doi.org/10.1093/hmg/ddi491DOI Listing
March 2006

Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.

Am J Med Genet A 2005 Oct;138A(2):118-26

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.30906DOI Listing
October 2005