John M Graham

John M Graham

UNVERIFIED PROFILE

Are you John M Graham?   Register this Author

Register author
John M Graham

John M Graham

Publications by authors named "John M Graham"

Are you John M Graham?   Register this Author

97Publications

2459Reads

28Profile Views

Update on the gestational effects of maternal hyperthermia.

Authors:
John M Graham

Birth Defects Res 2020 Jul;112(12):943-952

Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, Professor Emeritus of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1696DOI Listing
July 2020

De novo copy number variants and parental age: Is there an association?

Eur J Med Genet 2020 Apr 25;63(4):103829. Epub 2019 Dec 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103829DOI Listing
April 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Am J Med Genet C Semin Med Genet 2019 12 18;181(4):548-556. Epub 2019 Nov 18.

School of Life and Environmental Sciences, University of Sydney, Sydney, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31752DOI Listing
December 2019

Approach to overgrowth syndromes in the genome era.

Am J Med Genet C Semin Med Genet 2019 12 2;181(4):483-490. Epub 2019 Dec 2.

Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31757DOI Listing
December 2019

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 08 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10048-019-00578-1
Publisher Site
http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

J Pediatr 2019 08 10;211:207-210. Epub 2019 May 10.

Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2019.04.022DOI Listing
August 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Ann Clin Transl Neurol 2018 Sep 14;5(9):1128-1133. Epub 2018 Aug 14.

Department of Neurology Cedars-Sinai Medical Center Los Angeles California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144452PMC
September 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review.

Am J Med Genet A 2018 08 28;176(8):1768-1772. Epub 2018 Jul 28.

Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, California.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38851
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38851DOI Listing
August 2018

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura.

J Pregnancy 2016 22;2016:8297407. Epub 2016 Mar 22.

Epidemiology, OptumInsight, Waltham, MA 02451, USA; Department of Medicine, Division of Pharmacoeconomics and Pharmacoepidemiology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02120, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2016/8297407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820621PMC
December 2016

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

Am J Med Genet A 2016 10 6;170(10):2632-7. Epub 2016 May 6.

Genetic Institute, Emek Medical Center, Afula, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37740DOI Listing
October 2016

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome.

Mol Genet Metab 2016 May 23;118(1):60-3. Epub 2016 Mar 23.

Dept. of Pediatrics, Cedars Sinai Medical Center, Harbor-UCLA Medical Center, University of California, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.03.007DOI Listing
May 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Hum Genome Var 2015 19;2:15045. Epub 2015 Nov 19.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546PMC
April 2016

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Hum Genome Var 2016 4;3:15069. Epub 2016 Feb 4.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119PMC
April 2016

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Eur J Med Genet 2016 Feb 22;59(2):70-4. Epub 2015 Dec 22.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.12.006DOI Listing
February 2016

Fractionation of Subcellular Organelles.

Authors:
John M Graham

Curr Protoc Cell Biol 2015 Dec 1;69:3.1.1-3.1.22. Epub 2015 Dec 1.

JG Research Consultancy, Wirral, United Kingdom.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/0471143030.cb0301s69
Publisher Site
http://dx.doi.org/10.1002/0471143030.cb0301s69DOI Listing
December 2015

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.

Neurol Genet 2015 Dec 16;1(4):e34. Epub 2015 Nov 16.

David Geffen School of Medicine at UCLA (C.S.), Los Angeles, CA; and Division of Clinical Neuroradiology and Interventional Neuroradiology (F.M.), Division of Clinical Genetics and Dysmorphology (J.M.G.), Department of Pediatrics (J.M.G., V.W.), Department of Pediatrics and Neurology (T.M.P.), and Board of Governors Regenerative Medicine Institute (T.M.P.), Cedars-Sinai Medical Center, Los Angeles, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811382PMC
December 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37131
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

19q13.32 microdeletion syndrome: three new cases.

Eur J Med Genet 2014 Nov-Dec;57(11-12):654-8. Epub 2014 Sep 16.

Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles CA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.08.009DOI Listing
July 2015

Review of genetic and environmental factors leading to hypospadias.

Eur J Med Genet 2014 Aug 21;57(8):453-63. Epub 2014 Mar 21.

Medical Genetics Institute, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.03.003DOI Listing
August 2014

Genetics of common malformations.

Eur J Med Genet 2014 Aug 10;57(8):353-4. Epub 2014 Jun 10.

Department of Paediatrics and Translational Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.05.007DOI Listing
August 2014

New genetic testing in prenatal diagnosis.

Semin Fetal Neonatal Med 2014 Jun 4;19(3):214-9. Epub 2013 Dec 4.

Medical Genetics Institute, Cedars-Sinai Medical Center and Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.siny.2013.10.005DOI Listing
June 2014

Introduction.

Semin Fetal Neonatal Med 2014 Jun 25;19(3):137-8. Epub 2013 Dec 25.

Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT, Suite 400, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.siny.2013.12.001DOI Listing
June 2014

Expanding our knowledge of conditions associated with the ASXL gene family.

Genome Med 2013 21;5(2):16. Epub 2013 Feb 21.

Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, 8700 Beverly Blvd, PACT Suite 400, Los Angeles, CA 90048, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706972PMC
May 2014

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Am J Med Genet A 2014 Apr 23;164A(4):1035-40. Epub 2014 Jan 23.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36381DOI Listing
April 2014

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Am J Med Genet A 2014 Mar 19;164A(3):676-84. Epub 2013 Dec 19.

Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36340DOI Listing
March 2014

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Eur J Med Genet 2014 Mar 27;57(4):181-4. Epub 2014 Feb 27.

Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.02.009DOI Listing
March 2014

Congenital muscular torticollis and positional plagiocephaly.

Pediatr Rev 2014 Feb;35(2):79-87; quiz 87

Departments of Pediatrics and Internal Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/pir.35-2-79DOI Listing
February 2014

Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician.

Clin Pediatr (Phila) 2014 Jan 3;53(1):71-81. Epub 2013 Sep 3.

1Wright State University School of Medicine, Dayton, OH, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0009922813500846
Publisher Site
http://dx.doi.org/10.1177/0009922813500846DOI Listing
January 2014

MED12 related disorders.

Am J Med Genet A 2013 Nov 10;161A(11):2734-40. Epub 2013 Oct 10.

Department of Pediatrics, Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839301PMC
November 2013

Extrinsic factors influencing fetal deformations and intrauterine growth restriction.

J Pregnancy 2012 19;2012:750485. Epub 2012 Jul 19.

Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, 4650 Sunset Boulevard, MS 90, Los Angeles, CA 90027, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2012/750485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409542PMC
July 2013

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2941-5. Epub 2012 Sep 17.

Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477260PMC
November 2012

Clubfeet and associated abnormalities on fetal magnetic resonance imaging.

Prenat Diagn 2012 Sep 8;32(9):822-8. Epub 2012 Jun 8.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.3911DOI Listing
September 2012

Ovarian cysts on prenatal MRI.

Eur J Radiol 2012 Aug 18;81(8):1937-44. Epub 2011 May 18.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejrad.2011.04.047DOI Listing
August 2012

Ichthyotic skin disorders in the neonate.

Clin Pediatr (Phila) 2012 Aug 22;51(8):796-800. Epub 2012 Apr 22.

David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0009922811430348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979343PMC
August 2012

Blistering skin disorders in the neonate.

Clin Pediatr (Phila) 2012 Jul 8;51(7):685-8. Epub 2012 Jan 8.

David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0009922811430347DOI Listing
July 2012

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

Authors:
John M Graham

Eur J Med Genet 2012 May 20;55(5):332-4. Epub 2011 Dec 20.

Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Drive, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212110012
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439502PMC
May 2012

Clinical review of genetic epileptic encephalopathies.

Eur J Med Genet 2012 May 25;55(5):281-98. Epub 2012 Jan 25.

Clinical Genetics and Dysmorphology, Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590070PMC
May 2012

Male genital abnormalities in intrauterine growth restriction.

Prenat Diagn 2012 May 11;32(5):427-31. Epub 2012 Apr 11.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.3831DOI Listing
May 2012

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Eur J Med Genet 2012 May 29;55(5):354-7. Epub 2012 May 29.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.05.003DOI Listing
May 2012

Common causes of genetic epileptic encephalopathies.

Eur J Med Genet 2012 May 6;55(5):279-80. Epub 2012 Jun 6.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.06.001DOI Listing
May 2012

Situs anomalies on prenatal MRI.

Eur J Radiol 2012 Apr 28;81(4):e495-501. Epub 2011 Jun 28.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejrad.2011.06.016DOI Listing
April 2012

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Am J Hum Genet 2012 Apr 29;90(4):746-51. Epub 2012 Mar 29.

Department of Human Genetics, University of California-Los Angeles, CA 90095, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322224PMC
April 2012

MR imaging of the fetal musculoskeletal system.

Prenat Diagn 2012 Mar;32(3):205-13

Medical University Vienna, Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2914DOI Listing
March 2012

Tumor disease and associated congenital abnormalities on prenatal MRI.

Eur J Radiol 2012 Feb 12;81(2):e115-22. Epub 2011 Feb 12.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejrad.2010.12.095DOI Listing
February 2012

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Eur J Med Genet 2012 Jan 24;55(1):59-62. Epub 2011 Oct 24.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, PACT, Suite 400, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2011.10.001DOI Listing
January 2012

Abnormalities of the penis in utero--hypospadias on fetal MRI.

J Perinat Med 2011 07 2;39(4):451-6. Epub 2011 Jun 2.

Division of Neuroradiology and Musculoskeletal Radiology, Department of Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpm.2011.042DOI Listing
July 2011

Fetal akinesia and associated abnormalities on prenatal MRI.

Prenat Diagn 2011 May 4;31(5):484-90. Epub 2011 Mar 4.

Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2724DOI Listing
May 2011

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).

Am J Med Genet C Semin Med Genet 2010 Nov;154C(4):477-85

Medical Genetics Institute at Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.30284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967396PMC
November 2010

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

Am J Med Genet A 2010 Sep;152A(9):2268-76

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33579
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2931360PMC
September 2010

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Dev Disabil Res Rev 2009 ;15(4):328-32

Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ddrr.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909519PMC
March 2010

Fetal constraint as a potential risk factor for craniosynostosis.

Am J Med Genet A 2010 Feb;152A(2):394-400

Children's Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California 90027, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815148PMC
February 2010

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

Am J Med Genet A 2009 Oct;149A(10):2122-8

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32992DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768228PMC
October 2009

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Eur J Med Genet 2009 Mar-Jun;52(2-3):123-7. Epub 2009 Mar 28.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120900025
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2009.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853231PMC
September 2009

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):13-9

Emory University School of Medicine, Atlanta, Georgia 30033, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20503DOI Listing
January 2009

Elements of morphology: standard terminology for the periorbital region.

Am J Med Genet A 2009 Jan;149A(1):29-39

Department of Pediatrics, University of Kentucky, Lexington, Kentucky 40536-0284, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32597DOI Listing
January 2009

'Soft failures'.

Authors:
John M Graham

Cochlear Implants Int 2004 Dec;5(4):v-vi

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1179/cim.2004.5.4.vDOI Listing
December 2004