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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Molecular syndromology, 2013-06, Vol.4 (5), p.235-245

2013

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Syndromes and the study of autism

Neurotoxicology and teratology, 2013-05, Vol.37, p.79-79

2013

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Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities

Molecular psychiatry, 2014-11, Vol.19 (11), p.1205-1211

2014

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Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

American journal of neuroradiology : AJNR, 2018-05, Vol.39 (5), p.928-934

2018

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

American journal of human genetics, 2007-11, Vol.81 (5), p.906-912

2007

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Incidental radiologic findings in the 22q11.2 deletion syndrome

American journal of neuroradiology : AJNR, 2014-11, Vol.35 (11), p.2186-2191

2014

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Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes

Neuropsychologia, 2008-01, Vol.46 (1), p.82-94

2008

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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Molecular syndromology, 2011-05, Vol.1 (5), p.262-271

2011

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Molecular analysis of the 18q- syndrome : and correlation with phenotype

American journal of human genetics, 1993-05, Vol.52 (5), p.895-906

1993

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Constitutional Ip36 deletion in a child with neuroblastoma

American journal of human genetics, 1993-01, Vol.52 (1), p.176-182

1993

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A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

American journal of human genetics, 1993, Vol.52 (1), p.39-45

1993

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Effects of a functional COMT polymorphism on neurocognitive function in the 22Q deletion syndrome

Schizophrenia research, 2003-03, Vol.60 (1), p.78-79

2003

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Metopic Craniosynostosis Syndrome Due to Mutations in GLI3

2011

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217. The neurobehavioral phenotype of the 22Q11.2 deletion syndrome

Biological psychiatry (1969), 2000-04, Vol.47 (8), p.S66-S66

2000

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Analysis of clinical variation seen in patients with 18q terminal deletions

American journal of medical genetics, 1995-12, Vol.59 (4), p.476-483

1995

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Complex chromosomal rearrangement and multiple spontaneous abortions

Human genetics, 1986-11, Vol.74 (3), p.326-326

1986

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Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

American journal of medical genetics, 1996-10, Vol.65 (2), p.101-103

1996

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Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion

American journal of medical genetics, 1996-08, Vol.64 (3), p.525-526

1996

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A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation

Cytogenetic and genome research, 1977-04, Vol.19 (4), p.240-240

1977

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A (10;17) translocation, 46 chromosomes

Cytogenetic and genome research, 1976-01, Vol.17 (5), p.302-303

1976

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More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Syndromes and the study of autism

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

Incidental radiologic findings in the 22q11.2 deletion syndrome

Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Molecular analysis of the 18q- syndrome : and correlation with phenotype

Constitutional Ip36 deletion in a child with neuroblastoma

A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

Effects of a functional COMT polymorphism on neurocognitive function in the 22Q deletion syndrome

Metopic Craniosynostosis Syndrome Due to Mutations in GLI3

217. The neurobehavioral phenotype of the 22Q11.2 deletion syndrome

Analysis of clinical variation seen in patients with 18q terminal deletions

Complex chromosomal rearrangement and multiple spontaneous abortions

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion

A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation

A (10;17) translocation, 46 chromosomes

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