Literature DB >> 17318845

Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH.

Marjolein Kriek1, Jeroen Knijnenburg, Stefan J White, Carla Rosenberg, Johan T den Dunnen, Gert-Jan B van Ommen, Hans J Tanke, Martijn H Breuning, Karoly Szuhai.   

Abstract

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Year:  2007        PMID： 17318845     DOI： 10.1002/ajmg.a.31593

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

1.  High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Authors:  Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2010-02-03       Impact factor: 4.246

2.  Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

Authors:  Roberta Lelis Dutra; Patrícia de Campos Pieri; Ana Carolina Dias Teixeira; Rachel Sayuri Honjo; Debora Romeo Bertola; Chong Ae Kim
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

3.  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

4.  A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:  Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; Nicolette S den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia A L Ruivenkamp
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246

5.  "Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes.

Authors:  Maryam Rafati; Elaheh Seyyedaboutorabi; Mohammad R Ghadirzadeh; Yaser Heshmati; Homeira Adibi; Zarrintaj Keihanidoust; Mohammad R Eshraghian; Gholam Reza Javadi; Jila Dastan; Alireza Mosavi-Jarrahi; Azadeh Hoseini; Marzieh Purhoseini; Saeed R Ghaffari
Journal:  Mol Cytogenet       Date:  2012-01-29       Impact factor: 2.009

6.  Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

Authors:  Ashutosh Halder; Manish Jain; Isha Chaudhary; Neerja Gupta; Madhulika Kabra
Journal:  Indian J Med Res       Date:  2013       Impact factor: 2.375

7.  Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India.

Authors:  Neetha John; Moka Rajasekhar; Katta Mohan Girisha; Podila Satya Venkata Narasimha Sharma; Puthiya Mundyat Gopinath
Journal:  Indian J Hum Genet       Date:  2013-04

8.  Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Authors:  F D Hannes; A J Sharp; H C Mefford; T de Ravel; C A Ruivenkamp; M H Breuning; J-P Fryns; K Devriendt; G Van Buggenhout; A Vogels; H Stewart; R C Hennekam; G M Cooper; R Regan; S J L Knight; E E Eichler; J R Vermeesch
Journal:  J Med Genet       Date:  2008-06-11       Impact factor: 6.318

9.  Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.

Authors:  Joo Wook Ahn; Kathy Mann; Zoe Docherty; Caroline Mackie Ogilvie
Journal:  Mol Cytogenet       Date:  2008-03-26       Impact factor: 2.009
  9 in total

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