Literature DB >> 30140194

Syndromes Hidden within the 16p11.2 Deletion Region.

Martin Poot.   

Abstract

Year:  2018        PMID: 30140194      PMCID: PMC6103351          DOI: 10.1159/000490845

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


× No keyword cloud information.
  39 in total

1.  A hot spot of genetic instability in autism.

Authors:  Evan E Eichler; Andrew W Zimmerman
Journal:  N Engl J Med       Date:  2008-01-09       Impact factor: 91.245

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.  Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

Authors:  Guy Horev; Jacob Ellegood; Jason P Lerch; Young-Eun E Son; Lakshmi Muthuswamy; Hannes Vogel; Abba M Krieger; Andreas Buja; R Mark Henkelman; Michael Wigler; Alea A Mills
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-03       Impact factor: 11.205

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 reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Authors:  Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

7.  Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:  Sébastien Jacquemont; Alexandre Reymond; Flore Zufferey; Louise Harewood; Robin G Walters; Zoltán Kutalik; Danielle Martinet; Yiping Shen; Armand Valsesia; Noam D Beckmann; Gudmar Thorleifsson; Marco Belfiore; Sonia Bouquillon; Dominique Campion; Nicole de Leeuw; Bert B A de Vries; Tõnu Esko; Bridget A Fernandez; Fernando Fernández-Aranda; José Manuel Fernández-Real; Mònica Gratacòs; Audrey Guilmatre; Juliane Hoyer; Marjo-Riitta Jarvelin; R Frank Kooy; Ants Kurg; Cédric Le Caignec; Katrin Männik; Orah S Platt; Damien Sanlaville; Mieke M Van Haelst; Sergi Villatoro Gomez; Faida Walha; Bai-Lin Wu; Yongguo Yu; Azzedine Aboura; Marie-Claude Addor; Yves Alembik; Stylianos E Antonarakis; Benoît Arveiler; Magalie Barth; Nathalie Bednarek; Frédérique Béna; Sven Bergmann; Mylène Beri; Laura Bernardini; Bettina Blaumeiser; Dominique Bonneau; Armand Bottani; Odile Boute; Han G Brunner; Dorothée Cailley; Patrick Callier; Jean Chiesa; Jacqueline Chrast; Lachlan Coin; Charles Coutton; Jean-Marie Cuisset; Jean-Christophe Cuvellier; Albert David; Bénédicte de Freminville; Bruno Delobel; Marie-Ange Delrue; Bénédicte Demeer; Dominique Descamps; Gérard Didelot; Klaus Dieterich; Vittoria Disciglio; Martine Doco-Fenzy; Séverine Drunat; Bénédicte Duban-Bedu; Christèle Dubourg; Julia S El-Sayed Moustafa; Paul Elliott; Brigitte H W Faas; Laurence Faivre; Anne Faudet; Florence Fellmann; Alessandra Ferrarini; Richard Fisher; Elisabeth Flori; Lukas Forer; Dominique Gaillard; Marion Gerard; Christian Gieger; Stefania Gimelli; Giorgio Gimelli; Hans J Grabe; Agnès Guichet; Olivier Guillin; Anna-Liisa Hartikainen; Délphine Heron; Loyse Hippolyte; Muriel Holder; Georg Homuth; Bertrand Isidor; Sylvie Jaillard; Zdenek Jaros; Susana Jiménez-Murcia; Géraldine Joly Helas; Philippe Jonveaux; Satu Kaksonen; Boris Keren; Anita Kloss-Brandstätter; Nine V A M Knoers; David A Koolen; Peter M Kroisel; Florian Kronenberg; Audrey Labalme; Emilie Landais; Elisabetta Lapi; Valérie Layet; Solenn Legallic; Bruno Leheup; Barbara Leube; Suzanne Lewis; Josette Lucas; Kay D MacDermot; Pall Magnusson; Christian Marshall; Michèle Mathieu-Dramard; Mark I McCarthy; Thomas Meitinger; Maria Antonietta Mencarelli; Giuseppe Merla; Alexandre Moerman; Vincent Mooser; Fanny Morice-Picard; Mafalda Mucciolo; Matthias Nauck; Ndeye Coumba Ndiaye; Ann Nordgren; Laurent Pasquier; Florence Petit; Rolph Pfundt; Ghislaine Plessis; Evica Rajcan-Separovic; Gian Paolo Ramelli; Anita Rauch; Roberto Ravazzolo; Andre Reis; Alessandra Renieri; Cristobal Richart; Janina S Ried; Claudine Rieubland; Wendy Roberts; Katharina M Roetzer; Caroline Rooryck; Massimiliano Rossi; Evald Saemundsen; Véronique Satre; Claudia Schurmann; Engilbert Sigurdsson; Dimitri J Stavropoulos; Hreinn Stefansson; Carola Tengström; Unnur Thorsteinsdóttir; Francisco J Tinahones; Renaud Touraine; Louis Vallée; Ellen van Binsbergen; Nathalie Van der Aa; Catherine Vincent-Delorme; Sophie Visvikis-Siest; Peter Vollenweider; Henry Völzke; Anneke T Vulto-van Silfhout; Gérard Waeber; Carina Wallgren-Pettersson; Robert M Witwicki; Simon Zwolinksi; Joris Andrieux; Xavier Estivill; James F Gusella; Omar Gustafsson; Andres Metspalu; Stephen W Scherer; Kari Stefansson; Alexandra I F Blakemore; Jacques S Beckmann; Philippe Froguel
Journal:  Nature       Date:  2011-08-31       Impact factor: 49.962

8.  Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.

Authors:  Jill A Rosenfeld; Justine Coppinger; Bassem A Bejjani; Santhosh Girirajan; Evan E Eichler; Lisa G Shaffer; Blake C Ballif
Journal:  J Neurodev Disord       Date:  2010-03       Impact factor: 4.025

9.  Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Authors:  M N Loviglio; M Leleu; K Männik; M Passeggeri; G Giannuzzi; I van der Werf; S M Waszak; M Zazhytska; I Roberts-Caldeira; N Gheldof; E Migliavacca; A A Alfaiz; L Hippolyte; A M Maillard; A Van Dijck; R F Kooy; D Sanlaville; J A Rosenfeld; L G Shaffer; J Andrieux; C Marshall; S W Scherer; Y Shen; J F Gusella; U Thorsteinsdottir; G Thorleifsson; E T Dermitzakis; B Deplancke; J S Beckmann; J Rougemont; S Jacquemont; A Reymond
Journal:  Mol Psychiatry       Date:  2016-05-31       Impact factor: 15.992

10.  Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Authors:  Michael H Duyzend; Xander Nuttle; Bradley P Coe; Carl Baker; Deborah A Nickerson; Raphael Bernier; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2015-12-31       Impact factor: 11.025

View more
  2 in total

1.  Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.

Authors:  Rebecca Birnbaum; Behrang Mahjani; Ruth J F Loos; Andrew J Sharp
Journal:  JAMA Psychiatry       Date:  2022-03-01       Impact factor: 25.911

Review 2.  Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022.

Authors:  Mengyu Lim; Alessandro Carollo; Dagmara Dimitriou; Gianluca Esposito
Journal:  Genes (Basel)       Date:  2022-09-14       Impact factor: 4.141

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.