Ludmila Matyakhina

Ludmila Matyakhina

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Ludmila Matyakhina

Ludmila Matyakhina

Publications by authors named "Ludmila Matyakhina"

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27Publications

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Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

Am J Obstet Gynecol 2015 Aug 3;213(2):214.e1-5. Epub 2015 Apr 3.

Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.

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http://dx.doi.org/10.1016/j.ajog.2015.04.001DOI Listing
August 2015

An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.

J Clin Endocrinol Metab 2008 Feb 4;93(2):565-71. Epub 2007 Dec 4.

Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2007-1902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2243228PMC
February 2008

Large deletions of the PRKAR1A gene in Carney complex.

Clin Cancer Res 2008 Jan;14(2):388-95

Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-07-1155DOI Listing
January 2008

17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

J Clin Endocrinol Metab 2006 Sep 13;91(9):3626-32. Epub 2006 Jun 13.

Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2005-2608DOI Listing
September 2006

Tau is hyperphosphorylated in the insulin-like growth factor-I null brain.

Endocrinology 2005 Dec 25;146(12):5086-91. Epub 2005 Aug 25.

Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/en.2005-0063DOI Listing
December 2005

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.

J Clin Endocrinol Metab 2005 Jun 1;90(6):3773-9. Epub 2005 Mar 1.

Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Clinical Research Center, 10 Center Drive, MSC 1103, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2004-2377DOI Listing
June 2005

A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues.

Cancer Res 2005 Jun;65(11):4506-14

Human Cancer Genetics Program, and Division of Endocrinology, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-05-0580DOI Listing
June 2005

Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors.

Cancer Res 2004 Dec;64(24):8811-5

Section on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-04-3620DOI Listing
December 2004

A mouse model for Carney complex.

Endocr Res 2004 Nov;30(4):903-11

Section on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892-1862, USA.

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November 2004

Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).

Front Horm Res 2004 ;32:253-64

Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892-1862, USA.

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August 2004

Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.

Thromb Haemost 2004 Jul;92(1):75-88

Unit on Pediatric Genetics, Laboratory of Clinical Genomics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1160/TH04-02-0071DOI Listing
July 2004

Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?

J Clin Endocrinol Metab 2004 Jul;89(7):3173-82

Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development/NIH, Building 10, Room 10N262, 10 Center Drive MSC 1862, Bethesda, MD 20892-1862, USA.

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http://dx.doi.org/10.1210/jc.2003-032247DOI Listing
July 2004

Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.

Oncogene 2004 Feb;23(8):1575-85

Section on Endocrinology & Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/sj.onc.1207277DOI Listing
February 2004

Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.

Genes Chromosomes Cancer 2002 Oct;35(2):182-92

Unit on Genetics and Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA.

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http://dx.doi.org/10.1002/gcc.10112DOI Listing
October 2002

Protein kinase A and chromosomal stability.

Ann N Y Acad Sci 2002 Jun;968:148-57

Unit on Genetics & Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1111/j.1749-6632.2002.tb04333.xDOI Listing
June 2002