Publications by authors named "Rita Fischetto"

28Publications

Alagille Syndrome: A Novel Mutation in Gene.

Front Pediatr 2019 15;7:199. Epub 2019 May 15.

Pediatric Section, Department of Biomedicine and Human Oncology, University A. Moro, Bari, Italy.

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http://dx.doi.org/10.3389/fped.2019.00199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529843PMC
May 2019

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Eur J Hum Genet 2018 11 4;26(11):1708-1712. Epub 2018 Jul 4.

Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Women's and Children's Health, University of Padova, Padua, Italy.

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http://dx.doi.org/10.1038/s41431-018-0213-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189091PMC
November 2018

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Am J Med Genet A 2017 Jul 13;173(7):1922-1930. Epub 2017 Apr 13.

U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38253DOI Listing
July 2017

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Mol Cytogenet 2015 16;8:66. Epub 2015 Aug 16.

Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG) Italy.

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http://dx.doi.org/10.1186/s13039-015-0170-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544PMC
August 2015

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

J Hum Genet 2007 8;52(1):21-27. Epub 2006 Nov 8.

Department of Biomedical Sciences and Aging Research Center, Ce.S.I., G. d'Annunzio University Foundation, Via dei Vestini 35, Chieti-Pescara, 66013, Italy.

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http://dx.doi.org/10.1007/s10038-006-0074-5DOI Listing
March 2007

Chromosome analysis of spontaneous abortions after in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).

Eur J Obstet Gynecol Reprod Biol 2002 Oct;105(1):44-8

Department of Gynecology and Obstetrics, University of Bari, Piazza Giulio Cesare, 11, Bari, Italy.

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http://dx.doi.org/10.1016/s0301-2115(02)00151-3DOI Listing
October 2002

47,XX + mar karyotype containing genes from the azoospermia factor region. A case report.

J Reprod Med 2002 Jul;47(7):575-80

Departments of Obstetrics and Gynecology and of Genetics, University of Bari, Bari, Italy.

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July 2002