Literature DB >> 16909400

Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.

Leonardo Salviati, Mariagrazia Patricelli, Graziella Guariso, Giacomo Carlo Sturniolo, Rita Alaggio, Franca Bernardi, Orsetta Zuffardi, Romano Tenconi.   

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Year:  2006        PMID： 16909400      PMCID： PMC1559543          DOI： 10.1086/507151

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Authors:  M C Digilio; A Angioni; M De Santis; A Lombardo; A Giannotti; B Dallapiccola; B Marino
Journal:  Clin Genet       Date:  2003-04       Impact factor: 4.438

2.  Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

Authors:  Capucine Delnatte; Damien Sanlaville; Jean-Francois Mougenot; Joris-Robert Vermeesch; Claude Houdayer; Marie-Christine de Blois; David Genevieve; Olivier Goulet; Jean-Pierre Fryns; Francis Jaubert; Michel Vekemans; Stanislas Lyonnet; Serge Romana; Charis Eng; Dominique Stoppa-Lyonnet
Journal:  Am J Hum Genet       Date:  2006-04-14       Impact factor: 11.025

Review 3.  Hereditary polypoid diseases of the gastrointestinal tract: a working classification.

Authors:  C R Sachatello; W O Griffen
Journal:  Am J Surg       Date:  1975-02       Impact factor: 2.565

4.  Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Authors:  J Goodship; I Cross; P Scambler; J Burn
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

Authors:  K D Tsuchiya; G Wiesner; S B Cassidy; C Limwongse; J T Boyle; S Schwartz
Journal:  Genes Chromosomes Cancer       Date:  1998-02       Impact factor: 5.006

Review 6.  PTEN: one gene, many syndromes.

Authors:  Charis Eng
Journal:  Hum Mutat       Date:  2003-09       Impact factor: 4.878

Review 7.  Genetic conditions associated with intestinal juvenile polyps.

Authors:  Anders Merg; James R Howe
Journal:  Am J Med Genet C Semin Med Genet       Date:  2004-08-15       Impact factor: 3.908

Review 8.  DiGeorge syndrome: the use of model organisms to dissect complex genetics.

Authors:  Antonio Baldini
Journal:  Hum Mol Genet       Date:  2002-10-01       Impact factor: 6.150

9.  The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

Authors:  A K Vaishnaw; J R Orlinick; J L Chu; P H Krammer; M V Chao; K B Elkon
Journal:  J Clin Invest       Date:  1999-02       Impact factor: 14.808

Review 10.  Juvenile polyposis.

Authors:  D C Desai; K F Neale; I C Talbot; S V Hodgson; R K Phillips
Journal:  Br J Surg       Date:  1995-01       Impact factor: 6.939
  10 in total
  11 in total

Review 1.  Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23.

Authors:  F S Dahdaleh; J C Carr; D Calva; J R Howe
Journal:  Clin Genet       Date:  2011-09-06       Impact factor: 4.438

2.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

3.  Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance.

Authors:  Adebisi Alimi; Lauren A Weeth-Feinstein; Amy Stettner; Freddy Caldera; Jennifer M Weiss
Journal:  Am J Med Genet A       Date:  2015-04-05       Impact factor: 2.802

4.  A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.

Authors:  Marija Hiljadnikova Bajro; Elena Sukarova-Angelovska; Jose Adélaïde; Max Chaffanet; Aleksandar J Dimovski
Journal:  J Appl Genet       Date:  2012-09-21       Impact factor: 3.240

5.  Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.

Authors:  Daniel Calva-Cerqueira; Fadi S Dahdaleh; George Woodfield; Sathivel Chinnathambi; Peter L Nagy; Joy Larsen-Haidle; Ronald J Weigel; James R Howe
Journal:  Hum Mol Genet       Date:  2010-09-14       Impact factor: 6.150

6.  Aggressive juvenile polyposis in children with chromosome 10q23 deletion.

Authors:  Seth Septer; Lei Zhang; Caitlin E Lawson; Jose Cocjin; Thomas Attard; Holly H Ardinger
Journal:  World J Gastroenterol       Date:  2013       Impact factor: 5.742

7.  A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature.

Authors:  Piero Pavone; Andrea D Praticò; Corrado Campisi; Raffaele Falsaperla
Journal:  BMJ Case Rep       Date:  2016-04-18

Review 8.  Hamartomatous polyposis syndromes.

Authors:  Amanda Gammon; Kory Jasperson; Wendy Kohlmann; Randall W Burt
Journal:  Best Pract Res Clin Gastroenterol       Date:  2009       Impact factor: 3.043

9.  Pediatric juvenile polyposis syndromes: an update.

Authors:  Sherry C Huang; Steven H Erdman
Journal:  Curr Gastroenterol Rep       Date:  2009-06

10.  Juvenile polyposis syndrome.

Authors:  Wojciech Cichy; Beata Klincewicz; Andrzej Plawski
Journal:  Arch Med Sci       Date:  2014-06-27       Impact factor: 3.318
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