Literature DB >> 23885227

Late breaking chromosomes.

M Poot.   

Abstract

Year:  2013        PMID： 23885227      PMCID： PMC3711484          DOI： 10.1159/000350003

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  12 in total

Review 1.  Atypical patterns of inheritance.

Authors:  Andrea L Gropman; David R Adams
Journal:  Semin Pediatr Neurol       Date:  2007-03       Impact factor: 1.636

Review 2.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
Journal:  Cytogenet Genome Res       Date:  2011-11-02       Impact factor: 1.636

3.  Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.

Authors:  M Poot
Journal:  Mol Syndromol       Date:  2013-04-04

4.  Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Authors:  N Katsanis; S J Ansley; J L Badano; E R Eichers; R A Lewis; B E Hoskins; P J Scambler; W S Davidson; P L Beales; J R Lupski
Journal:  Science       Date:  2001-09-21       Impact factor: 47.728

Review 5.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

6.  Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Authors:  Martin Poot; Marc J Eleveld; Ruben van 't Slot; Hans Kristian Ploos van Amstel; Ron Hochstenbach
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

7.  Digenic mutations in severe myoclonic epilepsy of infancy.

Authors:  Maija Bolszak; Anna-Kaisa Anttonen; Tuomas Komulainen; Reetta Hinttala; Salla Pakanen; Raija Sormunen; Riitta Herva; Anna-Elina Lehesjoki; Kari Majamaa; Heikki Rantala; Johanna Uusimaa
Journal:  Epilepsy Res       Date:  2009-04-09       Impact factor: 3.045

8.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:  Santhosh Girirajan; Jill A Rosenfeld; Bradley P Coe; Sumit Parikh; Neil Friedman; Amy Goldstein; Robyn A Filipink; Juliann S McConnell; Brad Angle; Wendy S Meschino; Marjan M Nezarati; Alexander Asamoah; Kelly E Jackson; Gordon C Gowans; Judith A Martin; Erin P Carmany; David W Stockton; Rhonda E Schnur; Lynette S Penney; Donna M Martin; Salmo Raskin; Kathleen Leppig; Heidi Thiese; Rosemarie Smith; Erika Aberg; Dmitriy M Niyazov; Luis F Escobar; Dima El-Khechen; Kisha D Johnson; Robert R Lebel; Kiana Siefkas; Susie Ball; Natasha Shur; Marianne McGuire; Campbell K Brasington; J Edward Spence; Laura S Martin; Carol Clericuzio; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  N Engl J Med       Date:  2012-09-12       Impact factor: 91.245

9.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Authors:  Richard J L F Lemmers; Rabi Tawil; Lisa M Petek; Judit Balog; Gregory J Block; Gijs W E Santen; Amanda M Amell; Patrick J van der Vliet; Rowida Almomani; Kirsten R Straasheijm; Yvonne D Krom; Rinse Klooster; Yu Sun; Johan T den Dunnen; Quinta Helmer; Colleen M Donlin-Smith; George W Padberg; Baziel G M van Engelen; Jessica C de Greef; Annemieke M Aartsma-Rus; Rune R Frants; Marianne de Visser; Claude Desnuelle; Sabrina Sacconi; Galina N Filippova; Bert Bakker; Michael J Bamshad; Stephen J Tapscott; Daniel G Miller; Silvère M van der Maarel
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

10.  Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.

Authors:  Emma van Daalen; Chantal Kemner; Nienke E Verbeek; Bert van der Zwaag; Trijnie Dijkhuizen; Patrick Rump; Renske Houben; Ruben van 't Slot; Maretha V de Jonge; Wouter G Staal; Frits A Beemer; Jacob A S Vorstman; J Peter H Burbach; Hans Kristian Ploos van Amstel; Ron Hochstenbach; Eva H Brilstra; Martin Poot
Journal:  Neurogenetics       Date:  2011-08-12       Impact factor: 2.660
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