Výsledky vyhledávání - "Blough, R. I."

Periodical

Recurrence of triploidy in a woman with low level 45,X mosaicism

Autor: Johnson, L R, Blough, R I, Miller, M E

Publikováno v: Genetics in Medicine; January 2000, Vol. 2 Issue: 1 p110-110, 1p

Akademický článek

Numerous colonic adenomas in an individual with Bloom's syndrome.

Autor: Lowy AM; Department of Surgery, Division of Surgical Oncology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267-0524, USA., Kordich JJ, Gismondi V, Varesco L, Blough RI, Groden J

Publikováno v: Gastroenterology [Gastroenterology] 2001 Aug; Vol. 121 (2), pp. 435-9.

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Akademický článek

Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia.

Autor: Lee DW; Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA., Zhang K, Ning ZQ, Raabe EH, Tintner S, Wieland R, Wilkins BJ, Kim JM, Blough RI, Arceci RJ

Publikováno v: Cancer research [Cancer Res] 2000 Jul 01; Vol. 60 (13), pp. 3612-22.

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Akademický článek

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Autor: Petrij F; Departments of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands., Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH

Publikováno v: Journal of medical genetics [J Med Genet] 2000 Mar; Vol. 37 (3), pp. 168-76.

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Akademický článek

Structure and organization of the mouse Atp2a2 gene encoding the sarco(endo)plasmic reticulum Ca2+-ATPase 2 (SERCA2) isoforms.

Autor: Ver Heyen M; Laboratorium voor Fysiologie, Katholieke Universiteit Leuven, Campus Gasthuisberg, Belgium., Reed TD, Blough RI, Baker DL, Zilberman A, Loukianov E, Van Baelen K, Raeymaekers L, Periasamy M, Wuytack F

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2000 Feb; Vol. 11 (2), pp. 159-63.

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Akademický článek

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

Autor: Blough RI; Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229-1933, USA. blour0@chmcc.org, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH

Publikováno v: American journal of medical genetics [Am J Med Genet] 2000 Jan 03; Vol. 90 (1), pp. 29-34.

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Akademický článek

45,X/46,X,r(Y) karyotype transmitted by father to son after intracytoplasmic sperm injection for oligospermia. A case report.

Autor: Bofinger MK; Department of Obstetrics and Gynecology, Bethesda Hospital, Cincinnati, OH 45206, USA., Needham DF, Saldana LR, Sosnowski JP, Blough RI

Publikováno v: The Journal of reproductive medicine [J Reprod Med] 1999 Jul; Vol. 44 (7), pp. 645-8.

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