Literature DB >> 15689456

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux.   

Abstract

Mesh：

Year:  2005        PMID： 15689456      PMCID： PMC1735995          DOI： 10.1136/jmg.2004.023861

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Authors:  Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Authors:  Christine Fauth; Susan M Gribble; Keith M Porter; Montserrat Codina-Pascual; Bee Ling Ng; Jürgen Kraus; Sabine Uhrig; Jürgen Leifheit; Thomas Haaf; Heike Fiegler; Nigel P Carter; Michael R Speicher
Journal:  Hum Genet       Date:  2006-01-03       Impact factor: 4.132

Review 3.  Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors:  Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal:  Brain       Date:  2014-01-28       Impact factor: 13.501

4.  Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Authors:  Marta-Catalina Miranda-Fernández; Silvia Ramírez-Oyaga; Carlos M Restrepo; Victor-Manuel Huertas-Quiñones; Magally Barrera-Castañeda; Rossi Quero; Camilo-José Hernández-Toro; Claudia Tamar Silva; Paul Laissue; Rodrigo Cabrera
Journal:  Mol Syndromol       Date:  2018-04-28

5.  Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.

Authors:  Heike Fiegler; Richard Redon; Nigel P Carter
Journal:  Nat Protoc       Date:  2007       Impact factor: 13.491

6.  Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints.

Authors:  Marzena Gajecka; Sulagna C Saitta; Andrew J Gentles; Lindsey Campbell; Karen Ciprero; Elizabeth Geiger; Anne Catherwood; Jill A Rosenfeld; Tamim Shaikh; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

7.  Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Authors:  Naoko Shiba; Ray A M Daza; Lisa G Shaffer; A James Barkovich; William B Dobyns; Robert F Hevner
Journal:  Acta Neuropathol Commun       Date:  2013-08-02       Impact factor: 7.801

8.  Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

Authors:  Go Hun Seo; Ja Hye Kim; Ja Hyang Cho; Gu-Hwan Kim; Eul-Ju Seo; Beom Hee Lee; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2016-01-22

9.  Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.

Authors:  Cristina Gervasini; Chiara Picinelli; Jacopo Azzollini; Daniela Rusconi; Maura Masciadri; Anna Cereda; Cinzia Marzocchi; Giuseppe Zampino; Angelo Selicorni; Romano Tenconi; Silvia Russo; Lidia Larizza; Palma Finelli
Journal:  BMC Med Genet       Date:  2013-04-03       Impact factor: 2.103

10.  Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Authors:  Anne-Karin Arndt; Sebastian Schafer; Jorg-Detlef Drenckhahn; M Khaled Sabeh; Eva R Plovie; Almuth Caliebe; Eva Klopocki; Gabriel Musso; Andreas A Werdich; Hermann Kalwa; Matthias Heinig; Robert F Padera; Katharina Wassilew; Julia Bluhm; Christine Harnack; Janine Martitz; Paul J Barton; Matthias Greutmann; Felix Berger; Norbert Hubner; Reiner Siebert; Hans-Heiner Kramer; Stuart A Cook; Calum A MacRae; Sabine Klaassen
Journal:  Am J Hum Genet       Date:  2013-06-13       Impact factor: 11.025
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