Literature DB >> 11784558

Terminal deletion of 1p36.

L G Shaffer1, H A Heilstedt.   

Abstract

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Year:  2001        PMID： 11784558     DOI： 10.1016/S0140-6736(01)07022-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

Authors:  Heidi A Heilstedt; Blake C Ballif; Leslie A Howard; Richard A Lewis; Samuel Stal; Catherine D Kashork; Carlos A Bacino; Stuart K Shapira; Lisa G Shaffer
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025

2.  New Genetic Insights into Congenital Heart Disease.

Authors:  Stephanie M Ware; John Lynn Jefferies
Journal:  J Clin Exp Cardiolog       Date:  2012-06-15

Review 3.  Epilepsy and chromosomal abnormalities.

Authors:  Giovanni Sorge; Anna Sorge
Journal:  Ital J Pediatr       Date:  2010-05-03       Impact factor: 2.638

4.  Occupational exposure to benzene and chromosomal structural aberrations in the sperm of Chinese men.

Authors:  Francesco Marchetti; Brenda Eskenazi; Rosana H Weldon; Guilan Li; Luoping Zhang; Stephen M Rappaport; Thomas E Schmid; Caihong Xing; Elaine Kurtovich; Andrew J Wyrobek
Journal:  Environ Health Perspect       Date:  2011-11-15       Impact factor: 9.031

5.  A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome.

Authors:  Vonita Chawla; Miran Rhee Anagnost; Alaa-Eldin Eldemerdash; Dahna Reyes; Rebecca Scherr; Kanayo Ezeanolue; Francis Banfro; Rabea Alhosh
Journal:  J Investig Med High Impact Case Rep       Date:  2018-07-24

6.  FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome.

Authors:  Idoya Lahortiga; Iria Vázquez; Elena Belloni; José P Román; Patrizia Gasparini; Francisco J Novo; Isabel Zudaire; Pier G Pelicci; Jesús M Hernández; María J Calasanz; María D Odero
Journal:  Hum Genet       Date:  2005-03-03       Impact factor: 4.132

7.  Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.

Authors:  Gregory J Fitzgibbon; Jill Clayton-Smith; Siddharth Banka; Susan J Hamilton; Margaret M Needham; Jonathan K Dore; Jake T Miller; Gareth D Pawson; Lorraine Gaunt
Journal:  J Med Case Rep       Date:  2008-11-19

8.  Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Authors:  Stefano Stagi; Elisabetta Lapi; Marilena Pantaleo; Francesco Chiarelli; Salvatore Seminara; Maurizio de Martino
Journal:  BMC Med Genet       Date:  2014-01-30       Impact factor: 2.103

9.  Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Authors:  Pricila da Silva Cunha; Heloisa B Pena; Carla Sustek D'Angelo; Celia P Koiffmann; Jill A Rosenfeld; Lisa G Shaffer; Martin Stofanko; Higgor Gonçalves-Dornelas; Sérgio Danilo Junho Pena
Journal:  Dis Markers       Date:  2014-04-15       Impact factor: 3.434
  9 in total

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