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There are 29364 results for: content related to: Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

  1. Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 8, 15 April 2007, Pages: 853–857, Chumei Li, Sandra L Marles, Cheryl R. Greenberg, Bernard N. Chodirker, Jiddeke van de Kamp, Anne Slavotinek and Albert E. Chudley

    Version of Record online : 12 MAR 2007, DOI: 10.1002/ajmg.a.31446

  2. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1909–1914, A. Slavotinek, C. Li, E.H. Sherr and A.E. Chudley

    Version of Record online : 7 AUG 2006, DOI: 10.1002/ajmg.a.31399

  3. Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 103, Issue 6, June 2015, Pages: 554–566, Silvia Morlino, Marco Castori, Francesca Servadei, Luigi Laino, Evelina Silvestri, Pediatric Craniofacial Malformation (PECRAM) Study Group and Paola Grammatico

    Version of Record online : 31 OCT 2014, DOI: 10.1002/bdra.23327

  4. Single gene disorders associated with congenital diaphragmatic hernia

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 172–183, Anne M. Slavotinek

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30125

  5. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia–evaluation of DSEL as a candidate gene for the diaphragmatic defect

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 916–923, Hatem Zayed, Ryan Chao, Ali Moshrefi, Nelson LopezJimenez, Allen Delaney, Justin Chen, Gary M. Shaw and Anne M. Slavotinek

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33341

  6. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3012–3017, Denny Schanze, Magdalena Harakalova, Cathy A. Stevens, Francesco Brancati, Bruno Dallapiccola, Peter Farndon, Victor E. F. Ferraz, Donna M. McDonald-McGinn, Elaine H. Zackai, Michael Wright, Stef van Lieshout, Maartje J. Vogel, Mieke M. van Haelst and Martin Zenker

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36119

  7. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome?

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 69–72, Anne M. Slavotinek, Amalia Dutra, Dzifa Kpodzo, Evgenia Pak, Takaya Nakane, Joyce Turner, Margo Whiteford, Leslie G. Biesecker and Pamela Stratton

    Version of Record online : 23 MAR 2004, DOI: 10.1002/ajmg.a.30071

  8. Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 186–193, Angela E. Lin, Barbara R. Pober, Mary P. Mullen and Anne M. Slavotinek

    Version of Record online : 10 NOV 2005, DOI: 10.1002/ajmg.a.31023

  9. Basement membranes in development and disease

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 90, Issue 1, March 2010, Pages: 8–31, Fenny Wiradjaja, Tia DiTommaso and Ian Smyth

    Version of Record online : 18 MAR 2010, DOI: 10.1002/bdrc.20172

  10. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 158–171, Barbara R. Pober

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30126

  11. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1237–1240, Melissa A. Parisi, Hatem Zayed, Anne M. Slavotinek and Joe C. Rutledge

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32684

  12. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 17–23, S. Kantarci, D. Casavant, C. Prada, M. Russell, J. Byrne, L. Wilkins Haug, R. Jennings, S. Manning, T.K. Boyd, J.P. Fryns, L.B. Holmes, P.K. Donahoe, C. Lee, V. Kimonis and B.R. Pober

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31025

  13. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 162–168, WY Ng, F Pasutto, TM Bardakjian, MJ Wilson, G Watson, A Schneider, DA Mackey, JR Grigg, M Zenker and RV Jamieson

    Version of Record online : 20 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01851.x

  14. Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 217–226, Sibel Kantarci and Patricia K. Donahoe

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30132

  15. Diagnostics in athletes with long-standing groin pain

    Scandinavian Journal of Medicine & Science in Sports

    Volume 18, Issue 6, December 2008, Pages: 679–690, J. A. C. G. Jansen, J. M. A. Mens, F. J. G. Backx and H. J. Stam

    Version of Record online : 14 OCT 2008, DOI: 10.1111/j.1600-0838.2008.00848.x

  16. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

    Prenatal Diagnosis

    Volume 31, Issue 9, September 2011, Pages: 912–914, A. L. Mosca, L. Pinson, J. Andrieux, H. Copin, N. Bigi, J. Puechberty, P. Sarda, A. Receveur, H. Sevestre, S. Pigeonnat, N. Marle, M. Payet, C. Ragon, T. Rousseau, C. Thauvin-Robinet, A. Masurel-Paulet, A. Schneider, N. Laurent, P. Sagot, F. Mugneret, G. Lefort, L. Faivre and P. Callier

    Version of Record online : 27 JUN 2011, DOI: 10.1002/pd.2793

  17. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3194–3203, Mieke M. van Haelst, Peter J. Scambler and Raoul C.M. Hennekam

    Version of Record online : 14 NOV 2007, DOI: 10.1002/ajmg.a.31951

  18. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3127–3136, Anne M. Slavotinek, Barbara Warmerdam, Angela E. Lin and Gary M. Shaw

    Version of Record online : 15 NOV 2007, DOI: 10.1002/ajmg.a.32100

  19. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2204–2212, M. Klaassens, R.J.H. Galjaard, D.A. Scott, H.T. Brüggenwirth, D. van Opstal, M.V. Fox, R.R. Higgins, T.E. Cohen-Overbeek, E.M. Schoonderwaldt, B. Lee, D. Tibboel and A. de Klein

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31892

  20. Causes of premature death in Proteus syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 1, 1 June 2001, Pages: 1–3, M. Michael Cohen Jr.

    Version of Record online : 26 APR 2001, DOI: 10.1002/ajmg.1311