Literature DB >> 15173228

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes.

M A Aldred, R O C Sanford, N S Thomas, M A Barrow, L C Wilson, L A Brueton, M C Bonaglia, R C M Hennekam, C Eng, N R Dennis, R C Trembath.   

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Year:  2004        PMID： 15173228      PMCID： PMC1735790          DOI： 10.1136/jmg.2003.017202

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


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  30 in total

1.  Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.

Authors:  N Simon Thomas; Miranda Durkie; Berendine Van Zyl; Richard Sanford; Gemma Potts; Sheila Youings; Nicholas Dennis; Patricia Jacobs
Journal:  Hum Genet       Date:  2006-02-22       Impact factor: 4.132

2.  Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Authors:  Melissa Leyva-Vega; Jennifer Gerfen; Brian D Thiel; Dorota Jurkiewicz; Elizabeth B Rand; Joanna Pawlowska; Diana Kaminska; Pierre Russo; Xiaowu Gai; Ian D Krantz; Binita M Kamath; Hakon Hakonarson; Barbara A Haber; Nancy B Spinner
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

Review 3.  Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

Authors:  Giovanna Mantovani; Anna Spada; Francesca Marta Elli
Journal:  Nat Rev Endocrinol       Date:  2016-04-22       Impact factor: 43.330

Review 4.  Genetic syndromes caused by mutations in epigenetic genes.

Authors:  María Berdasco; Manel Esteller
Journal:  Hum Genet       Date:  2013-01-31       Impact factor: 4.132

5.  Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

Authors:  Françoise Devillard; Vincent Guinchat; Daniel Moreno-De-Luca; Anne-Claude Tabet; Nicolas Gruchy; Pascale Guillem; Marie-Ange Nguyen Morel; Nathalie Leporrier; Marion Leboyer; Pierre-Simon Jouk; James Lespinasse; Catalina Betancur
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

6.  Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome).

Authors:  Esra Nagehan Akyol Onder; Mine Ozkol; Nalan Nese; Can Taneli; Osman Orkun Cankorur; Ipek Ozunan
Journal:  J Pediatr Genet       Date:  2019-09-23

7.  Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.

Authors:  Philipp G Maass; Anja Weise; Katharina Rittscher; Julia Lichtenwald; A Rasim Barutcu; Thomas Liehr; Atakan Aydin; Yvette Wefeld-Neuenfeld; Laura Pölsler; Sigrid Tinschert; John L Rinn; Friedrich C Luft; Sylvia Bähring
Journal:  EMBO J       Date:  2018-06-19       Impact factor: 11.598

8.  Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.

Authors:  E Rajcan-Separovic; C Harvard; X Liu; B McGillivray; J G Hall; Y Qiao; J Hurlburt; J Hildebrand; E C R Mickelson; J J A Holden; M E S Lewis
Journal:  J Med Genet       Date:  2006-09-08       Impact factor: 6.318

Review 9.  Autism and cytogenetic abnormalities: solving autism one chromosome at a time.

Authors:  Christa Lese Martin; David H Ledbetter
Journal:  Curr Psychiatry Rep       Date:  2007-04       Impact factor: 5.285

10.  The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Authors:  Camille Leroy; Emilie Landais; Sylvain Briault; Albert David; Olivier Tassy; Nicolas Gruchy; Bruno Delobel; Marie-José Grégoire; Bruno Leheup; Laurence Taine; Didier Lacombe; Marie-Ange Delrue; Annick Toutain; Agathe Paubel; Francine Mugneret; Christel Thauvin-Robinet; Stéphanie Arpin; Cedric Le Caignec; Philippe Jonveaux; Mylène Beri; Nathalie Leporrier; Jacques Motte; Caroline Fiquet; Olivier Brichet; Monique Mozelle-Nivoix; Pascal Sabouraud; Nathalie Golovkine; Nathalie Bednarek; Dominique Gaillard; Martine Doco-Fenzy
Journal:  Eur J Hum Genet       Date:  2012-10-17       Impact factor: 4.246
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