Publications by authors named "Ethylin Wang Jabs"

93Publications

Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis.

Cell Rep 2020 Jul;32(1):107871

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Cell, Developmental and Regenerative Biology and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.celrep.2020.107871DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7379176PMC
July 2020

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Brain Commun 2020 14;2(1):fcaa014. Epub 2020 Feb 14.

Quantitative Medical Imaging Section, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/braincomms/fcaa014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158234PMC
February 2020

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis.

J Vis Exp 2019 12 18(154). Epub 2019 Dec 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai.

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http://dx.doi.org/10.3791/60503DOI Listing
December 2019

Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.

Dis Model Mech 2019 05 30;12(5). Epub 2019 May 30.

Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.

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http://dx.doi.org/10.1242/dmm.038513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550049PMC
May 2019

Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.

Development 2018 10 5;145(19). Epub 2018 Oct 5.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

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http://dx.doi.org/10.1242/dev.166488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198473PMC
October 2018

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

PLoS One 2018 26;13(7):e0201492. Epub 2018 Jul 26.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201492PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062116PMC
January 2019

Choanal Atresia and Craniosynostosis: Development and Disease.

Plast Reconstr Surg 2018 01;141(1):156-168

University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.

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http://dx.doi.org/10.1097/PRS.0000000000003928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747311PMC
January 2018

Reconstructive Surgery in Times of Conflict.

J Craniofac Surg 2016 Sep;27(6):1506-9

*Division of Plastic and Reconstructive Surgery, Department of Surgery †Department of Pediatrics, Department of Genetics and Genomic Sciences, Department of Developmental and Regenerative Biology ‡Division of Plastic and Reconstructive Surgery, Department of Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.

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http://dx.doi.org/10.1097/SCS.0000000000002878DOI Listing
September 2016

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Mol Biol Cell 2016 07 25;27(14):2172-85. Epub 2016 May 25.

Anatomy and Cell Biology, University of Western Ontario, London, ON N6A 5C1, Canada Physiology and Pharmacology, University of Western Ontario, London, ON N6A 5C1, Canada

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http://dx.doi.org/10.1091/mbc.E16-01-0062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945137PMC
July 2016

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Plast Reconstr Surg 2016 Mar;137(3):952-61

New York and Albany, N.Y.; University Park, Pa.; Iowa City, Iowa; Wuhan, People's Republic of China; and Paris and Pessac, France From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai; the Congenital Malformations Registry, New York State Department of Health; the Department of Anthropology, Pennsylvania State University; the Department of Epidemiology, University of Iowa; the State Key Laboratory Breeding Base of Basic Science of Stomatology and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University; the Department of Pediatric Hematology, Robert Debré Hospital; and Université de Bordeaux, UMR5199 PACEA, Bordeaux Archaeological Sciences Cluster of Excellence.

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http://dx.doi.org/10.1097/01.prs.0000479978.75545.eeDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770826PMC
March 2016

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Curr Genet Med Rep 2014 Sep;2(3):135-145

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1497, New York, NY 10029-6574, USA.

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http://link.springer.com/content/pdf/10.1007%2Fs40142-014-00
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http://link.springer.com/10.1007/s40142-014-0042-x
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http://dx.doi.org/10.1007/s40142-014-0042-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489147PMC
September 2014

Ten-year experience of more than 35,000 orofacial clefts in Africa.

BMC Pediatr 2015 Feb 14;15. Epub 2015 Feb 14.

Department of Pediatrics at Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, Box 1497, New York, NY, 10029, USA.

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http://dx.doi.org/10.1186/s12887-015-0328-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342189PMC
February 2015

BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

Gene Expr Patterns 2015 Jan 12;17(1):16-25. Epub 2014 Dec 12.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.gep.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369408PMC
January 2015

Oral clefting in china over the last decade: 205,679 patients.

Plast Reconstr Surg Glob Open 2014 Oct 7;2(10):e236. Epub 2014 Nov 7.

State University of New York Downstate College of Medicine, Brooklyn, N.Y.; Division of Plastic and Reconstructive Surgery, Mount Sinai Health System, New York, N.Y.; and Department of Genetics and Genomic Sciences, Mount Sinai Health System, New York, N.Y.

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http://dx.doi.org/10.1097/GOX.0000000000000186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236381PMC
October 2014

Mirror movements identified in patients with moebius syndrome.

Tremor Other Hyperkinet Mov (N Y) 2014 22;4:256. Epub 2014 Jul 22.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.7916/D83F4MR8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107286PMC
August 2014

Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.

J Craniofac Surg 2014 Sep;25(5):1601-9

From the Departments of *Genetics and Genomic Sciences, †Pediatrics, ‡Surgery, and Dentistry, Mount Sinai Medical Center, New York, New York; §University of Texas Medical School at Houston, Houston, Texas; and ∥State University of New York Downstate College of Medicine, Brooklyn, New York.

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http://dx.doi.org/10.1097/SCS.0000000000000883DOI Listing
September 2014

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

JAMA Ophthalmol 2014 Oct;132(10):1215-20

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland4Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.1731DOI Listing
October 2014

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

Hum Mutat 2014 Aug 3;35(8):945-8. Epub 2014 Jun 3.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California; Institute for Human Genetics, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/humu.22581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110103PMC
August 2014

Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice.

BMC Dev Biol 2014 Feb 28;14. Epub 2014 Feb 28.

Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.

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http://dx.doi.org/10.1186/1471-213X-14-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101838PMC
February 2014

Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.

Dev Dyn 2014 Apr 7;243(4):541-51. Epub 2014 Feb 7.

Department of Anthropology, Penn State University, University Park, Pennsylvania.

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http://dx.doi.org/10.1002/dvdy.24095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998671PMC
April 2014

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.

Dis Model Mech 2013 May 8;6(3):768-79. Epub 2013 Mar 8.

Department of Anthropology, Pennsylvania State University, 409 Carpenter Building, University Park, PA 16802, USA.

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http://dx.doi.org/10.1242/dmm.010397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634659PMC
May 2013

Postnatal brain and skull growth in an Apert syndrome mouse model.

Am J Med Genet A 2013 Apr 12;161A(4):745-57. Epub 2013 Mar 12.

Department of Pathology and Anatomical Sciences, University of Missouri-School of Medicine, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1002/ajmg.a.35805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606655PMC
April 2013

Tissue-specific responses to aberrant FGF signaling in complex head phenotypes.

Dev Dyn 2013 Jan 5;242(1):80-94. Epub 2012 Dec 5.

Department of Anthropology, Pennsylvania State University, University Park, PA, USA.

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http://dx.doi.org/10.1002/dvdy.23903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556393PMC
January 2013

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

Am J Med Genet A 2012 Jul 24;158A(7):1556-67. Epub 2012 May 24.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA.

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http://dx.doi.org/10.1002/ajmg.a.35379DOI Listing
July 2012

Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study.

J Community Genet 2011 Sep 7;2(3):153-63. Epub 2011 Jun 7.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1428 Madison Avenue, Box 1497, New York, NY, 10029, USA.

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http://dx.doi.org/10.1007/s12687-011-0052-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3186034PMC
September 2011

Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis.

Birth Defects Res A Clin Mol Teratol 2011 Jul 31;91(7):623-30. Epub 2011 May 31.

Congenital Malformations Registry, Bureau of Environmental and Occupational Epidemiology, New York State Department of Health, Troy, USA.

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https://www.researchgate.net/profile/Ethylin_Jabs/publicatio
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http://doi.wiley.com/10.1002/bdra.20823
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http://dx.doi.org/10.1002/bdra.20823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042859PMC
July 2011

Genetic basis of potential therapeutic strategies for craniosynostosis.

Am J Med Genet A 2010 Dec;152A(12):3007-15

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA.

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http://dx.doi.org/10.1002/ajmg.a.33703DOI Listing
December 2010

Tgfbeta3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest.

Mech Dev 2010 Jul-Aug;127(7-8):329-44. Epub 2010 Apr 18.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

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https://linkinghub.elsevier.com/retrieve/pii/S09254773100002
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http://dx.doi.org/10.1016/j.mod.2010.04.003DOI Listing
January 2011

Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

Dev Dyn 2010 Mar;239(3):987-97

Department of Pathology and Anatomical Sciences, University of Missouri-School of Medicine, Columbia, Missouri 65212, USA.

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http://dx.doi.org/10.1002/dvdy.22218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829947PMC
March 2010

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.

PLoS Genet 2009 Jul 10;5(7):e1000558. Epub 2009 Jul 10.

Molecular and Computational Biology Program, University of Southern California, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700275PMC
July 2009

Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family.

Dev Genes Evol 2009 Jun 30;219(6):289-300. Epub 2009 Jun 30.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1007/s00427-009-0290-zDOI Listing
June 2009

The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.

Bone 2008 Jul 29;43(1):55-63. Epub 2008 Feb 29.

Department of Biomedical Engineering, The Johns Hopkins University, 3400 N. Charles Street, Clark 106, Baltimore, MD, 21218, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2008.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743143PMC
July 2008

SAGE analysis from 1 microg of total RNA.

Curr Protoc Cell Biol 2002 Nov;Chapter 19:Unit 19.4

Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1002/0471143030.cb1904s16DOI Listing
November 2002

Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.

Dev Genes Evol 2007 Dec 11;217(11-12):783-9. Epub 2007 Oct 11.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074, Singapore.

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http://dx.doi.org/10.1007/s00427-007-0187-7DOI Listing
December 2007

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

Genet Med 2007 Apr;9(4):219-27

Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA, and Department of Medical Research and Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

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http://dx.doi.org/10.1097/gim.0b013e3180423ccaDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846512PMC
April 2007

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Am J Hum Genet 2007 Feb 3;80(2):361-71. Epub 2007 Jan 3.

Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing China.

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http://dx.doi.org/10.1086/511387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785357PMC
February 2007

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

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Cleft Palate Craniofac J 2006 Mar;43(2):148-51

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, Sala 200 CEP 05508-900 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1597/04-206.1DOI Listing
March 2006

Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.

J Cell Sci 2006 Feb 17;119(Pt 3):532-41. Epub 2006 Jan 17.

Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1242/jcs.02770DOI Listing
February 2006

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Hum Genet 2006 Mar 11;119(1-2):199-205. Epub 2006 Jan 11.

Key Laboratory of Oral Biomedical Engineering of Ministry of Education, Department of Endodontics, Hospital and School of Stomatology, Wuhan University, Luoyu Road 237, 430079 Wuhan, Peoples Republic of China.

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http://link.springer.com/content/pdf/10.1007/s00439-005-0129
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http://link.springer.com/10.1007/s00439-005-0129-2
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http://dx.doi.org/10.1007/s00439-005-0129-2DOI Listing
March 2006

A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development.

Bioessays 2005 Nov;27(11):1102-6

Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University, Baltimore, MD 21205, USA.

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http://doi.wiley.com/10.1002/bies.20313
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http://dx.doi.org/10.1002/bies.20313DOI Listing
November 2005

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.

Development 2005 Aug 23;132(15):3537-48. Epub 2005 Jun 23.

Institute of Genetic Medicine, Department of Pediatrics, The Johns Hopkins University School of Medicine, 733 North Broadway, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1242/dev.01914DOI Listing
August 2005

Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.

Gene Expr Patterns 2005 Jun 19;5(5):629-38. Epub 2005 Apr 19.

Department of Pediatrics, National University of Singapore, Level 4, Main Building, National University Hospital, Singapore.

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http://dx.doi.org/10.1016/j.modgep.2005.03.002DOI Listing
June 2005

Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.

Circ Res 2005 May 5;96(10):e83-91. Epub 2005 May 5.

Department of Pharmacology, S.U.N.Y. Upstate Medical University, Syracuse, NY 13210, USA.

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http://dx.doi.org/10.1161/01.RES.0000168369.79972.d2DOI Listing
May 2005

Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3).

Dev Dyn 2005 Apr;232(4):1021-30

Department of Pediatrics, National University of Singapore and Hospital, Singapore 119074, Singapore.

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http://dx.doi.org/10.1002/dvdy.20282DOI Listing
April 2005

Gene expression in pharyngeal arch 1 during human embryonic development.

Hum Mol Genet 2005 Apr 9;14(7):903-12. Epub 2005 Feb 9.

Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1093/hmg/ddi083DOI Listing
April 2005

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Am J Med Genet A 2004 Apr;126A(1):84-8

Department of Pediatrics, Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, The Johns Hopkins University, Baltimore, Maryland 21287-3914, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20488
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http://dx.doi.org/10.1002/ajmg.a.20488DOI Listing
April 2004

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Nat Genet 2004 Mar 1;36(3):228-30. Epub 2004 Feb 1.

Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA.

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http://www.nature.com/articles/ng1300
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http://dx.doi.org/10.1038/ng1300DOI Listing
March 2004

Dear old dad.

Sci Aging Knowledge Environ 2004 Jan 21;2004(3):re1. Epub 2004 Jan 21.

Institute of Genetic Medicine at Johns Hopkins University, Baltimore, MD 21287, USA.

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http://sageke.sciencemag.org/cgi/doi/10.1126/sageke.2004.3.r
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http://dx.doi.org/10.1126/sageke.2004.3.re1DOI Listing
January 2004

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

Eur J Hum Genet 2003 Sep;11(9):718-22

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, CEP 05508-900, Cidade Universitaria, São Paulo, SP, Brazil.

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http://www.nature.com/articles/5201029
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http://dx.doi.org/10.1038/sj.ejhg.5201029DOI Listing
September 2003

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

Am J Hum Genet 2003 Oct 31;73(4):939-47. Epub 2003 Jul 31.

Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University, Baltimore, MD 21287, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180614PMC
http://dx.doi.org/10.1086/378419DOI Listing
October 2003

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Hum Genet 2003 Jul 3;113(1):1-9. Epub 2003 Apr 3.

McKusick-Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, MD 21287-3914, Baltimore, USA.

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http://link.springer.com/content/pdf/10.1007/s00439-003-0932
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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-003-0932-6DOI Listing
July 2003

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Am J Hum Genet 2003 Feb 27;72(2):408-18. Epub 2002 Nov 27.

Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760549
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http://dx.doi.org/10.1086/346090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379233PMC
February 2003