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 Clinical utility gene card for: deletion 22q13 syndrome.

Literature DB >> 21150887

Clinical utility gene card for: deletion 22q13 syndrome.

Katy Phelan¹, Catalina Betancur.

Abstract

Mesh：

Substances：

Year: 2010 PMID： 21150887 PMCID： PMC3060317 DOI： 10.1038/ejhg.2010.193

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

× No keyword cloud information.

10 in total

1. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Authors: M C Bonaglia; R Giorda; R Borgatti; G Felisari; C Gagliardi; A Selicorni; O Zuffardi
Journal: Am J Hum Genet Date: 2001-06-18 Impact factor: 11.025

2. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

Authors: J J Luciani; P de Mas; D Depetris; C Mignon-Ravix; A Bottani; M Prieur; P Jonveaux; A Philippe; G Bourrouillou; B de Martinville; B Delobel; L Vallee; M-F Croquette; M-G Mattei
Journal: J Med Genet Date: 2003-09 Impact factor: 6.318

3. Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Authors: Heather L Wilson; John A Crolla; Dena Walker; Lina Artifoni; Bruno Dallapiccola; Takako Takano; Pradeep Vasudevan; Shuwen Huang; Vivienne Maloney; Twila Yobb; Oliver Quarrell; Heather E McDermid
Journal: Eur J Hum Genet Date: 2008-06-04 Impact factor: 4.246

4. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Authors: Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe de Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Journal: Nat Genet Date: 2006-12-17 Impact factor: 38.330

5. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Authors: S U Dhar; D del Gaudio; J R German; S U Peters; Z Ou; P I Bader; J S Berg; M Blazo; C W Brown; B H Graham; T A Grebe; S Lalani; M Irons; S Sparagana; M Williams; J A Phillips; A L Beaudet; P Stankiewicz; A Patel; S W Cheung; T Sahoo
Journal: Am J Med Genet A Date: 2010-03 Impact factor: 2.802

6. Contribution of SHANK3 mutations to autism spectrum disorder.

Authors: Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal: Am J Hum Genet Date: 2007-10-16 Impact factor: 11.025

Review 7. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.

Authors: Kristina Cusmano-Ozog; Melanie A Manning; H Eugene Hoyme
Journal: Am J Med Genet C Semin Med Genet Date: 2007-11-15 Impact factor: 3.908

8. Novel de novo SHANK3 mutation in autistic patients.

Authors: Julie Gauthier; Dan Spiegelman; Amélie Piton; Ronald G Lafrenière; Sandra Laurent; Judith St-Onge; Line Lapointe; Fadi F Hamdan; Patrick Cossette; Laurent Mottron; Eric Fombonne; Ridha Joober; Claude Marineau; Pierre Drapeau; Guy A Rouleau
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2009-04-05 Impact factor: 3.568

9. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors: H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal: J Med Genet Date: 2003-08 Impact factor: 6.318

10. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.

Authors: M C Bonaglia; R Giorda; E Mani; G Aceti; B-M Anderlid; A Baroncini; T Pramparo; O Zuffardi
Journal: J Med Genet Date: 2005-11-11 Impact factor: 6.318

10 in total

7 in total

Review 1. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.

Authors: Jesse L Costales; Alexander Kolevzon
Journal: Neurotherapeutics Date: 2015-07 Impact factor: 7.620

2. Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.

Authors: Wenting Wang; Chenchen Li; Qian Chen; Marie-Sophie van der Goes; James Hawrot; Annie Y Yao; Xian Gao; Congyi Lu; Ying Zang; Qiangge Zhang; Katherine Lyman; Dongqing Wang; Baolin Guo; Shengxi Wu; Charles R Gerfen; Zhanyan Fu; Guoping Feng
Journal: J Clin Invest Date: 2017-04-17 Impact factor: 14.808

3. The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors: K Phelan; H E McDermid
Journal: Mol Syndromol Date: 2011-11-22

4. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene.

Authors: Elodie Drapeau; Mohammed Riad; Yuji Kajiwara; Joseph D Buxbaum
Journal: eNeuro Date: 2018-10-05

5. Absence of strong strain effects in behavioral analyses of Shank3-deficient mice.

Authors: Elodie Drapeau; Nate P Dorr; Gregory A Elder; Joseph D Buxbaum
Journal: Dis Model Mech Date: 2014-03-20 Impact factor: 5.758

Review 6. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Authors: Alexander Kolevzon; Benjamin Angarita; Lauren Bush; A Ting Wang; Yitzchak Frank; Amy Yang; Robert Rapaport; Jeffrey Saland; Shubhika Srivastava; Cristina Farrell; Lisa J Edelmann; Joseph D Buxbaum
Journal: J Neurodev Disord Date: 2014-10-08 Impact factor: 4.025

Review 7. Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.

Authors: Arianna Ricciardello; Pasquale Tomaiuolo; Antonio M Persico
Journal: Am J Med Genet A Date: 2021-05-05 Impact factor: 2.802

7 in total