Literature DB >> 11840481

The end of the beginning of chromosome ends.

Leslie G Biesecker1.   

Abstract

Mesh：

Year:  2002        PMID： 11840481     DOI： 10.1002/ajmg.10160

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  20 in total

1.  Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype.

Authors:  Paige B Larrabee; Kirby L Johnson; Ekaterina Pestova; Madhuri Lucas; Kim Wilber; Erik S LeShane; Umadevi Tantravahi; Janet M Cowan; Diana W Bianchi
Journal:  Am J Hum Genet       Date:  2004-07-13       Impact factor: 11.025

2.  Genomic imbalances in mental retardation.

Authors:  M Kriek; S J White; M C Bouma; H G Dauwerse; K B M Hansson; J V Nijhuis; B Bakker; G-J B van Ommen; J T den Dunnen; M H Breuning
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

3.  Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Authors:  J B Ravnan; J H Tepperberg; P Papenhausen; A N Lamb; J Hedrick; D Eash; D H Ledbetter; C L Martin
Journal:  J Med Genet       Date:  2005-09-30       Impact factor: 6.318

4.  Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Authors:  D A Koolen; W M Nillesen; M H A Versteeg; G F M Merkx; N V A M Knoers; M Kets; S Vermeer; C M A van Ravenswaaij; C G de Kovel; H G Brunner; D Smeets; B B A de Vries; E A Sistermans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

5.  High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH).

Authors:  E J Hollox; T Atia; G Cross; T Parkin; J A L Armour
Journal:  J Med Genet       Date:  2002-11       Impact factor: 6.318

6.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

7.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 8.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

9.  Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Authors:  Lina Shao; Chad A Shaw; Xin-Yan Lu; Trilochan Sahoo; Carlos A Bacino; Seema R Lalani; Pawel Stankiewicz; Svetlana A Yatsenko; Yinfeng Li; Sarah Neill; Amber N Pursley; A Craig Chinault; Ankita Patel; Arthur L Beaudet; James R Lupski; Sau W Cheung
Journal:  Am J Med Genet A       Date:  2008-09-01       Impact factor: 2.802

10.  Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Authors:  Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Journal:  Ital J Pediatr       Date:  2009-04-27       Impact factor: 2.638
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