Literature DB >> 21570089

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Anne S Bassett1, Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jacob Vorstman.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 21570089      PMCID： PMC3197829          DOI： 10.1016/j.jpeds.2011.02.039

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  43 in total

1.  Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome.

Authors:  Wai Lun Alan Fung; Rebecca McEvilly; Jessica Fong; Candice Silversides; Eva Chow; Anne Bassett
Journal:  Am J Psychiatry       Date:  2010-08       Impact factor: 18.112

2.  Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

Authors:  P J Scambler; A H Carey; R K Wyse; S Roach; J P Dumanski; M Nordenskjold; R Williamson
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

3.  A deletion in chromosome 22 can cause DiGeorge syndrome.

Authors:  A de la Chapelle; R Herva; M Koivisto; P Aula
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

Authors:  S Oskarsdóttir; M Vujic; A Fasth
Journal:  Arch Dis Child       Date:  2004-02       Impact factor: 3.791

5.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

Authors:  R I Kelley; E H Zackai; B S Emanuel; M Kistenmacher; F Greenberg; H H Punnett
Journal:  J Pediatr       Date:  1982-08       Impact factor: 4.406

6.  Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

Authors:  A Baumer; M Riegel; A Schinzel
Journal:  J Med Genet       Date:  2004-06       Impact factor: 6.318

7.  22q11 deletion: a multisystem disorder requiring multidisciplinary input.

Authors:  K L Greenhalgh; I A Aligianis; G Bromilow; H Cox; C Hill; Y Stait; B J Leech; P W Lunt; M Ellis
Journal:  Arch Dis Child       Date:  2003-06       Impact factor: 3.791

8.  Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

Authors:  P Sandrin-Garcia; C Macedo; L R Martelli; E S Ramos; M L Guion-Almeida; A Richieri-Costa; G A S Passos
Journal:  Clin Genet       Date:  2002-05       Impact factor: 4.438

9.  Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Authors:  F Amati; E Conti; A Novelli; M Bengala; M C Diglio; B Marino; A Giannotti; O Gabrielli; G Novelli; B Dallapiccola
Journal:  Eur J Hum Genet       Date:  1999-12       Impact factor: 4.246

10.  Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

Authors:  D M McDonald-McGinn; M K Tonnesen; A Laufer-Cahana; B Finucane; D A Driscoll; B S Emanuel; E H Zackai
Journal:  Genet Med       Date:  2001 Jan-Feb       Impact factor: 8.822
View more
  184 in total

1.  Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors:  G Costain; E W C Chow; P N Ray; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2011-12-06

2.  Commentary: Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.

Authors:  Anne S Bassett
Journal:  J Can Acad Child Adolesc Psychiatry       Date:  2011-11

Review 3.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

Review 4.  Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.

Authors:  Kerri L Tang; Kevin M Antshel; Wanda P Fremont; Wendy R Kates
Journal:  J Dev Behav Pediatr       Date:  2015-10       Impact factor: 2.225

5.  Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.

Authors:  Sunny X Tang; James J Yi; Tyler M Moore; Monica E Calkins; Christian G Kohler; Daneen A Whinna; Margaret C Souders; Elaine H Zackai; Donna M McDonald-McGinn; Beverly S Emanuel; Warren B Bilker; Ruben C Gur; Raquel E Gur
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2014-06-19       Impact factor: 8.829

6.  Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.

Authors:  Bruna Lixinski Diniz; Andressa Schneiders Santos; Andressa Barreto Glaeser; Bruna Baierle Guaraná; Cláudia Fernandes Lorea; Juliana Alves Josahkian; Janaína Huber; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-06-17

7.  Bone density assessment in a cohort of pediatric patients affected by 22q11DS.

Authors:  A Ficcadenti; F Zallocco; R Neri; L Giovannini; G Tirabassi; G Balercia
Journal:  J Endocrinol Invest       Date:  2015-04-28       Impact factor: 4.256

8.  22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.

Authors:  Sylvie Jaillard; Elena J Tucker; Linda Akloul; Marion Beaumont; Mathilde Domin; Laurent Pasquier; Guilhem Jouve; Sylvie Odent; Marc-Antoine Belaud-Rotureau; Célia Ravel
Journal:  J Hum Genet       Date:  2018-03-14       Impact factor: 3.172

9.  Coping Strategies Mediate the Effect of Stressful Life Events on Schizotypal Traits and Psychotic Symptoms in 22q11.2 Deletion Syndrome.

Authors:  Marco Armando; Corrado Sandini; Maelle Chambaz; Marie Schaer; Maude Schneider; Stephan Eliez
Journal:  Schizophr Bull       Date:  2018-10-15       Impact factor: 9.306

Review 10.  The genetics of Autism Spectrum Disorders--a guide for clinicians.

Authors:  Karsten M Heil; Christian P Schaaf
Journal:  Curr Psychiatry Rep       Date:  2013-01       Impact factor: 5.285
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.