Literature DB >> 11303509

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

B B De Vries, S J Knight, T Homfray, S F Smithson, J Flint, R M Winter.   

Abstract

Mesh：

Year:  2001        PMID： 11303509      PMCID： PMC1734828          DOI： 10.1136/jmg.38.3.175

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


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  14 in total

1.  Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Authors:  M C Bonaglia; R Giorda; R Borgatti; G Felisari; C Gagliardi; A Selicorni; O Zuffardi
Journal:  Am J Hum Genet       Date:  2001-06-18       Impact factor: 11.025

Review 2.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

3.  Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum.

Authors:  Mitesh Shetty; Ambika Srikanth; Jayarama Kadandale; Sridevi Hegde
Journal:  Mol Syndromol       Date:  2015-09-11

4.  Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

Authors:  B B de Vries; S M White; S J Knight; R Regan; T Homfray; I D Young; M Super; C McKeown; M Splitt; O W Quarrell; A H Trainer; M F Niermeijer; S Malcolm; J Flint; J A Hurst; R M Winter
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

5.  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

6.  Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Authors:  M Rio; F Molinari; S Heuertz; C Ozilou; P Gosset; O Raoul; V Cormier-Daire; J Amiel; S Lyonnet; M Le Merrer; C Turleau; M-C de Blois; M Prieur; S Romana; M Vekemans; A Munnich; L Colleaux
Journal:  J Med Genet       Date:  2002-04       Impact factor: 6.318

7.  A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Authors:  Sonja A de Munnik; Sixto García-Miñaúr; Alexander Hoischen; Bregje W van Bon; Kym M Boycott; Jeroen Schoots; Lies H Hoefsloot; Nine V A M Knoers; Ernie M H F Bongers; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2013-11-06       Impact factor: 4.246

8.  A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum.

Authors:  Meena Lall; Seema Thakur; Ratna Puri; Ishwar Verma; Mithali Mukerji; Pankaj Jha
Journal:  Mol Cytogenet       Date:  2011-09-21       Impact factor: 2.009

9.  Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Authors:  Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2007-06-13       Impact factor: 11.025

10.  A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.

Authors:  Ben S Pickard; Edward J Hollox; M Pat Malloy; David J Porteous; Douglas H R Blackwood; John A L Armour; Walter J Muir
Journal:  BMC Med Genet       Date:  2004-08-13       Impact factor: 2.103
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