Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Literature DB >> 21931978

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Zivilė Ciuladaitė¹, Jūratė Kasnauskienė, Loreta Cimbalistienė, Eglė Preikšaitienė, Philippos C Patsalis, Vaidutis Kučinskas.

Abstract

Entities: Disease

Mesh：

Year: 2011 PMID： 21931978 DOI： 10.1007/s13353-011-0063-z

Source DB: PubMed Journal: J Appl Genet ISSN： 1234-1983 Impact factor: 3.240

× No keyword cloud information.

33 in total

1. SRPX2 mutations in disorders of language cortex and cognition.

Authors: Patrice Roll; Gabrielle Rudolf; Sandrine Pereira; Barbara Royer; Ingrid E Scheffer; Annick Massacrier; Maria-Paola Valenti; Nathalie Roeckel-Trevisiol; Sarah Jamali; Christophe Beclin; Caroline Seegmuller; Marie-Noëlle Metz-Lutz; Arnaud Lemainque; Marc Delepine; Christophe Caloustian; Anne de Saint Martin; Nadine Bruneau; Danièle Depétris; Marie-Geneviève Mattéi; Elisabeth Flori; Andrée Robaglia-Schlupp; Nicolas Lévy; Bernd A Neubauer; Rivka Ravid; Christian Marescaux; Samuel F Berkovic; Edouard Hirsch; Mark Lathrop; Pierre Cau; Pierre Szepetowski
Journal: Hum Mol Genet Date: 2006-02-23 Impact factor: 6.150

Review 2. 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

3. A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

Authors: Keiko Shimojima; Takehiko Inoue; Yuji Fujii; Kousaku Ohno; Toshiyuki Yamamoto
Journal: Eur J Med Genet Date: 2009-09-19 Impact factor: 2.708

4. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Authors: R G Walters; S Jacquemont; A Valsesia; A J de Smith; D Martinet; J Andersson; M Falchi; F Chen; J Andrieux; S Lobbens; B Delobel; F Stutzmann; J S El-Sayed Moustafa; J-C Chèvre; C Lecoeur; V Vatin; S Bouquillon; J L Buxton; O Boute; M Holder-Espinasse; J-M Cuisset; M-P Lemaitre; A-E Ambresin; A Brioschi; M Gaillard; V Giusti; F Fellmann; A Ferrarini; N Hadjikhani; D Campion; A Guilmatre; A Goldenberg; N Calmels; J-L Mandel; C Le Caignec; A David; B Isidor; M-P Cordier; S Dupuis-Girod; A Labalme; D Sanlaville; M Béri-Dexheimer; P Jonveaux; B Leheup; K Ounap; E G Bochukova; E Henning; J Keogh; R J Ellis; K D Macdermot; M M van Haelst; C Vincent-Delorme; G Plessis; R Touraine; A Philippe; V Malan; M Mathieu-Dramard; J Chiesa; B Blaumeiser; R F Kooy; R Caiazzo; M Pigeyre; B Balkau; R Sladek; S Bergmann; V Mooser; D Waterworth; A Reymond; P Vollenweider; G Waeber; A Kurg; P Palta; T Esko; A Metspalu; M Nelis; P Elliott; A-L Hartikainen; M I McCarthy; L Peltonen; L Carlsson; P Jacobson; L Sjöström; N Huang; M E Hurles; S O'Rahilly; I S Farooqi; K Männik; M-R Jarvelin; F Pattou; D Meyre; A J Walley; L J M Coin; A I F Blakemore; P Froguel; J S Beckmann
Journal: Nature Date: 2010-02-04 Impact factor: 49.962

5. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors: Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal: Nature Date: 2009-04-28 Impact factor: 49.962

6. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Authors: Bridget A Fernandez; Wendy Roberts; Brian Chung; Rosanna Weksberg; Stephen Meyn; Peter Szatmari; Ann M Joseph-George; Sara Mackay; Kathy Whitten; Barbara Noble; Cathy Vardy; Victoria Crosbie; Sandra Luscombe; Eva Tucker; Lesley Turner; Christian R Marshall; Stephen W Scherer
Journal: J Med Genet Date: 2009-09-15 Impact factor: 6.318

7. Strong association of de novo copy number mutations with autism.

Authors: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal: Science Date: 2007-03-15 Impact factor: 47.728

8. 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

9. 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

10. Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

Authors: Bert van der Zwaag; Lude Franke; Martin Poot; Ron Hochstenbach; Henk A Spierenburg; Jacob A S Vorstman; Emma van Daalen; Maretha V de Jonge; Nienke E Verbeek; Eva H Brilstra; Ruben van 't Slot; Roel A Ophoff; Michael A van Es; Hylke M Blauw; Jan H Veldink; Jacobine E Buizer-Voskamp; Frits A Beemer; Leonard H van den Berg; Cisca Wijmenga; Hans Kristian Ploos van Amstel; Herman van Engeland; J Peter H Burbach; Wouter G Staal
Journal: PLoS One Date: 2009-05-28 Impact factor: 3.240

7 in total

1. 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Authors: Mu Yang; Elena J Mahrt; Freeman Lewis; Gillian Foley; Thomas Portmann; Ricardo E Dolmetsch; Christine V Portfors; Jacqueline N Crawley
Journal: Autism Res Date: 2015-02-07 Impact factor: 5.216

Review 2. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors: David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal: Hum Genet Date: 2013-07-03 Impact factor: 4.132

3. Considering specific clinical features as evidence of pathogenic copy number variants.

Authors: Egle Preiksaitiene; Alma Molytė; Jurate Kasnauskiene; Zivile Ciuladaite; Algirdas Utkus; Philippos C Patsalis; Vaidutis Kučinskas
Journal: J Appl Genet Date: 2014-02-18 Impact factor: 3.240

4. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

Authors: Danielle P Moreira; Karina Griesi-Oliveira; Ana L Bossolani-Martins; Naila C V Lourenço; Vanessa N O Takahashi; Kátia M da Rocha; Eloisa S Moreira; Estevão Vadasz; Joanna Goes Castro Meira; Debora Bertola; Eoghan O'Halloran; Tiago R Magalhães; Agnes C Fett-Conte; Maria Rita Passos-Bueno
Journal: PLoS One Date: 2014-09-25 Impact factor: 3.240

5. Submicroscopic aberrations of chromosome 16 in prenatal diagnosis.

Authors: Xiaoqing Wu; Liangpu Xu; Ying Li; Na Lin; Linjuan Su; Meiying Cai; Xiaorui Xie; Lin Zheng; Hailong Huang; Yuan Lin
Journal: Mol Cytogenet Date: 2019-08-05 Impact factor: 2.009

6. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

Authors: Alicia Blaker-Lee; Sunny Gupta; Jasmine M McCammon; Gianluca De Rienzo; Hazel Sive
Journal: Dis Model Mech Date: 2012-05-01 Impact factor: 5.758

7. Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Authors: Edoardo Errichiello; Francesca Novara; Anna Cremante; Annapia Verri; Jessica Galli; Elisa Fazzi; Daniela Bellotti; Laura Losa; Mariangela Cisternino; Orsetta Zuffardi
Journal: Mol Cytogenet Date: 2016-02-24 Impact factor: 2.009

7 in total