LE WE PMID CA
Catch22467Catch22

Angelman s syndrome

Autism

Catch22

CMV

CNS (Development)

Cornelia de Lange syndrome

Down s syndrome

Fragile X syndrome

HOXA1

MECP2

Neurofibromatosis

Neuroligin3 NLGN3

Neuroligin4 NLGN4

NRXN1 Neurexin1

Phenylketonuria

PTEN MMAC1 TEP1

Rett s syndrome

Rubella

SHANK3

Thalidomide

Tuberous sclerosis

Turner s syndrome

Valproic acid

Williams syndrome

2000  
1
Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2).
[10875531] Dev Med Child Neurol 42(6): 422-7 (2000)
2002  
2
Otolaryngologic manifestations of the 22q11.2 deletion syndrome.
[12479730] Arch Otolaryngol Head Neck Surg 128(12): 1408-12 (2002)
2000  
3
2003  
4
22q11 deletion: a multisystem disorder requiring multidisciplinary input.
[12765922] Arch Dis Child 88(6): 523-4 (2003)
2003  
5
Hypoparathyroidism and 22q11 deletion syndrome.
[12765920] Arch Dis Child 88(6): 520-2 (2003)
1999  
6
Towards earlier diagnosis of 22q11 deletions.
[10569971] Arch Dis Child 81(6): 513-4 (1999)
1996  
7
Chromosome 22: a model with implications for diagnostic imaging.
[8686594] AJR Am J Roentgenol 167(2): 315-24 (1996)
2002  
8
2003  
9
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
[14523220] Pediatrics 112(4): e325 (2003)
2002  
10
The 22q11.2 deletion syndrome.
[12125909] Keio J Med 51(2): 77-88 (2002)
2008  
11
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
[18636632] Dev Disabil Res Rev 14(1): 11-8 (2008)
2008  
12
Velo-cardio-facial syndrome: 30 Years of study.
[18636631] Dev Disabil Res Rev 14(1): 3-10 (2008)
2008  
13
A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome.
[18612330] Dev Disabil Res Rev 14(1): 52-8 (2008)
2011  
14
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
[21570089] J Pediatr 159(2): 332-9.e1 (2011)
2010  
15
Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.
[20206275] Neuroimage 53(3): 857-69 (2010)
2009  
16
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.
[19376197] Neuroscience 164(1): 257-71 (2009)
2009  
17
Neuropathologic features in adults with 22q11.2 deletion syndrome.
[18483005] Cereb Cortex 19(1): 153-64 (2009)
2005  
18
Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2.
[16613818] Hormones (Athens) 4(4): 200-9 (2005)
2009  
19
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
[18728070] J Med Genet 46(1): 1-8 (2009)

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