Publications by authors named "Patricia I Bader"

19Publications

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Am J Med Genet A 2014 Oct 4;164A(10):2607-12. Epub 2014 Aug 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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October 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

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September 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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May 2014

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Am J Med Genet A 2011 May 7;155A(5):1196-201. Epub 2011 Apr 7.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.

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May 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Eur J Hum Genet 2011 Apr 1;19(4):409-15. Epub 2010 Dec 1.

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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April 2011

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Am J Med Genet 2002 May;109(4):249-60

St. Vincent Hospitals and Health Services, 2001 West 86th Street, PO Box 40970, Indianapolis, IN 46240, USA.

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May 2002