Publications by authors named "Catherine Kashork"

25Publications

Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH).

Curr Protoc Hum Genet 2010 Oct;Chapter 8:Unit 8.10.1-20

Signature Genomic Laboratories, Spokane, Washington, USA.

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http://dx.doi.org/10.1002/0471142905.hg0810s67DOI Listing
October 2010

Prenatal diagnosis using array CGH.

Methods Mol Biol 2008 ;444:59-69

Signature Genomics Laboratories, LLC, Spokane, WA, USA.

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http://dx.doi.org/10.1007/978-1-59745-066-9_5DOI Listing
June 2008

Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

Am J Med Genet A 2006 Dec;140(24):2757-67

Signature Genomic Laboratories, LLC, Spokane, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.31539DOI Listing
December 2006

Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.

Methods Mol Med 2006 ;128:23-31

Health Research and Education Center, Washington State University, Spokane, WA, USA.

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http://dx.doi.org/10.1007/978-1-59745-159-8_3DOI Listing
December 2006

Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.

J Soc Gynecol Investig 2005 Jul;12(5):376-83

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1016/j.jsgi.2005.02.011DOI Listing
July 2005

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.

Genome Res 2003 Dec;13(12):2519-32

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, New York 10461, USA.

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http://dx.doi.org/10.1101/gr.1549503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC403794PMC
December 2003

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.

Hum Mol Genet 2003 Sep 15;12(17):2153-65. Epub 2003 Jul 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddg231DOI Listing
September 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet A 2003 Apr;118A(2):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.

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April 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet 2002 Nov;112(4):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10659DOI Listing
November 2002

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.

Am J Med Genet 2002 Sep;112(1):23-7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10703DOI Listing
September 2002

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

Am J Med Genet 2002 Feb;108(1):69-74

Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon, France.

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http://dx.doi.org/10.1002/ajmg.10222DOI Listing
February 2002

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.

Ann N Y Acad Sci 1999 Oct;883(1):457-459

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USAKleberg Cytogenetics Laboratory, Baylor College of Medicine, Houston, Texas 77030, USADepartment of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1111/j.1749-6632.1999.tb08609.xDOI Listing
October 1999