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

[1]  A. Bassett,et al.  Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. , 2010, The American journal of psychiatry.

[2]  Guido Cocchi,et al.  International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies. , 2010, Birth defects research. Part A, Clinical and molecular teratology.

[3]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[4]  Stephan Eliez,et al.  Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. , 2009, Journal of the American Academy of Child and Adolescent Psychiatry.

[5]  H. Toriello,et al.  Evidence‐based medicine and practice guidelines: Application to genetics , 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

[6]  J. Husted,et al.  Premature death in adults with 22q11.2 deletion syndrome , 2009, Journal of Medical Genetics.

[7]  Christian R. Marshall,et al.  Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome , 2008, Human molecular genetics.

[8]  A. Bassett,et al.  Schizophrenia and 22q11.2 deletion syndrome , 2008, Current psychiatry reports.

[9]  K. Sullivan,et al.  Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. , 2008, Immunology and allergy clinics of North America.

[10]  Ronak K. Kapadia,et al.  Recognizing a common genetic syndrome: 22q11.2 deletion syndrome , 2008, Canadian Medical Association Journal.

[11]  B De Smedt,et al.  Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. , 2007, Journal of intellectual disability research : JIDR.

[12]  A. Bassett,et al.  Neurocognitive profile in 22q11 deletion syndrome and schizophrenia , 2006, Schizophrenia Research.

[13]  Juliane Hoyer,et al.  Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.

[14]  R. Weksberg,et al.  Clinical features of 78 adults with 22q11 deletion syndrome , 2005, American journal of medical genetics. Part A.

[15]  C. Persson,et al.  Presenting phenotype in 100 children with the 22q11 deletion syndrome , 2005, European Journal of Pediatrics.

[16]  A. Schinzel,et al.  Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion , 2004, Journal of Medical Genetics.

[17]  A. Fasth,et al.  Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden , 2004, Archives of Disease in Childhood.

[18]  H. Cox,et al.  22q11 deletion: a multisystem disorder requiring multidisciplinary input , 2003, Archives of disease in childhood.

[19]  G. Passos,et al.  Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome , 2002, Clinical genetics.

[20]  B. Roe,et al.  Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. , 2000, Human molecular genetics.

[21]  O. Gabrielli,et al.  Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome , 1999, European Journal of Human Genetics.

[22]  R. Weksberg,et al.  Phenotype of adults with the 22q11 deletion syndrome: A review. , 1999, American journal of medical genetics.

[23]  B. Morrow,et al.  Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. , 1999, American journal of human genetics.

[24]  I. Cross,et al.  A population study of chromosome 22q11 deletions in infancy , 1998, Archives of disease in childhood.

[25]  E. Hatchwell,et al.  Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11. , 1998, American journal of medical genetics.

[26]  S. Tezenas du Montcel,et al.  Prevalence of 22q11 microdeletion. , 1996, Journal of medical genetics.

[27]  A. T. Davis,et al.  Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. , 1996, American Journal of Cardiology.

[28]  E. Zackai,et al.  Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. , 1995, American journal of medical genetics.

[29]  R. Matsuoka,et al.  Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. , 1994, American journal of medical genetics.

[30]  M. Digilio,et al.  Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. , 1994, American journal of medical genetics.

[31]  E. Zackai,et al.  Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. , 1993, Journal of medical genetics.

[32]  E. Zackai,et al.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. , 1993, Journal of medical genetics.

[33]  P. Scambler,et al.  Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. , 1991, Genomics.

[34]  E. Zackai,et al.  The association of the DiGeorge anomalad with partial monosomy of chromosome 22. , 1982, The Journal of pediatrics.

[35]  E. Zackai,et al.  Genetic counseling for the 22q11.2 deletion. , 2008, Developmental disabilities research reviews.

[36]  M. Digilio,et al.  Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. , 2008, Developmental disabilities research reviews.

[37]  W. Kates,et al.  The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective. , 2008, Developmental disabilities research reviews.

[38]  B. Emanuel Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. , 2008, Developmental disabilities research reviews.

[39]  A. Chapelle,et al.  A deletion in chromosome 22 can cause digeorge syndrome , 2004, Human Genetics.

[40]  E. Zackai,et al.  Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net! , 2001, Genetics in Medicine.

[41]  E. Zackai,et al.  The Philadelphia story: the 22q11.2 deletion: report on 250 patients. , 1999, Genetic counseling.

[42]  P Scambler,et al.  Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22ql 1 , 2022 .