Literature DB >> 16278905

Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.

Maria Kirchhoff, Tommy Gerdes, Stine Brunebjerg, Thue Bryndorf.   

Abstract

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Year:  2005        PMID： 16278905     DOI： 10.1002/ajmg.a.31019

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


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  9 in total

1.  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Authors:  Paweł Stankiewicz; Shashikant Kulkarni; Avinash V Dharmadhikari; Srirangan Sampath; Samarth S Bhatt; Tamim H Shaikh; Zhilian Xia; Amber N Pursley; M Lance Cooper; Marwan Shinawi; Alex R Paciorkowski; Dorothy K Grange; Michael J Noetzel; Scott Saunders; Paul Simons; Marshall Summar; Brendan Lee; Fernando Scaglia; Florence Fellmann; Danielle Martinet; Jacques S Beckmann; Alexander Asamoah; Kathryn Platky; Susan Sparks; Ann S Martin; Suneeta Madan-Khetarpal; Jacqueline Hoover; Livija Medne; Carsten G Bonnemann; John B Moeschler; Stephanie E Vallee; Sumit Parikh; Polly Irwin; Victoria P Dalzell; Wendy E Smith; Valerie C Banks; David B Flannery; Carolyn M Lovell; Gary A Bellus; Kathryn Golden-Grant; Jerome L Gorski; Jennifer L Kussmann; Tracy L McGregor; Rizwan Hamid; Jean Pfotenhauer; Blake C Ballif; Chad A Shaw; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Jill A Rosenfeld; Sau Wai Cheung; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2011-11-02       Impact factor: 4.878

Review 2.  Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.

Authors:  Lorena Santa María; Víctor Faundes; Bianca Curotto; Paulina Morales; Karla Morales; Solange Aliaga; Ángela Pugin; María Angélica Alliende
Journal:  J Appl Genet       Date:  2015-06-12       Impact factor: 3.240

3.  Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Authors:  Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; Masoumeh Falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars R Jensen; Franz Rüschendorf; Andreas W Kuss; H Hilger Ropers
Journal:  Hum Genet       Date:  2006-11-21       Impact factor: 4.132

4.  Clinical Implications of Chromosome 16 Copy Number Variation.

Authors:  Emine Ikbal Atli; Sinem Yalcintepe; Engin Atli; Selma Demir; Cisem Mail; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2021-12-15

5.  Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Authors:  Joo Wook Ahn; Caroline Mackie Ogilvie; Alysia Welch; Helen Thomas; Rajiv Madula; Alison Hills; Celia Donaghue; Kathy Mann
Journal:  BMC Med Genet       Date:  2007-03-05       Impact factor: 2.103

6.  Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.

Authors:  Serena Redaelli; Silvia Maitz; Francesca Crosti; Elena Sala; Nicoletta Villa; Luigina Spaccini; Angelo Selicorni; Miriam Rigoldi; Donatella Conconi; Leda Dalprà; Gaia Roversi; Angela Bentivegna
Journal:  Int J Mol Sci       Date:  2019-03-04       Impact factor: 5.923

7.  Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.

Authors:  Leona Morozin Pohovski; Katja K Dumic; Ljubica Odak; Ingeborg Barisic
Journal:  Mol Cytogenet       Date:  2013-02-06       Impact factor: 2.009

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.  Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

Authors:  Juan R González; Josep L Carrasco; Lluís Armengol; Sergi Villatoro; Lluís Jover; Yutaka Yasui; Xavier Estivill
Journal:  BMC Bioinformatics       Date:  2008-06-04       Impact factor: 3.169
  9 in total

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