Literature DB >> 27350694

Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.

Shruthi Mohan1, Vettriselvi Venkatesan, Solomon Fd Paul, Teena Koshy, Venkatachalam Perumal.   

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Year:  2016        PMID： 27350694     DOI： 10.1007/s12041-016-0644-z

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  20 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

Review 2.  Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2014-09       Impact factor: 7.124

3.  Frequency of new copy number variation in humans.

Authors:  Gert-Jan B van Ommen
Journal:  Nat Genet       Date:  2005-04       Impact factor: 38.330

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.  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

Review 6.  Clinical genetic evaluation of the child with mental retardation or developmental delays.

Authors:  John B Moeschler; Michael Shevell
Journal:  Pediatrics       Date:  2006-06       Impact factor: 7.124

7.  A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

Authors:  K Buiting; V Greger; B H Brownstein; R M Mohr; I Voiculescu; A Winterpacht; B Zabel; B Horsthemke
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-15       Impact factor: 11.205

Review 8.  Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics.

Authors:  Cornelia Hömig-Hölzel; Suvi Savola
Journal:  Diagn Mol Pathol       Date:  2012-12

9.  Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

Authors:  A De Luca; I Bottillo; M C Dasdia; A Morella; V Lanari; L Bernardini; L Divona; S Giustini; L Sinibaldi; A Novelli; I Torrente; A Schirinzi; B Dallapiccola
Journal:  J Med Genet       Date:  2007-12       Impact factor: 6.318

10.  Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Authors:  Farmaditya E P Mundhofir; Willy M Nillesen; Bregje W M Van Bon; Dominique Smeets; Rolph Pfundt; Gaby van de Ven-Schobers; Martina Ruiterkamp-Versteeg; Tri I Winarni; Ben C J Hamel; Helger G Yntema; Sultana M H Faradz
Journal:  Indian J Hum Genet       Date:  2013-04
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