The annual incidence of DiGeorge/velocardiofacial syndrome.
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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new familiesIncidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenIn search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic reviewCNVs: harbingers of a rare variant revolution in psychiatric genetics22q11 deletion syndrome: current perspective.Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complicationsPrevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesModels of crk adaptor proteins in cancer.Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.Phenotype of adults with the 22q11 deletion syndrome: A reviewFrequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.A 1.1-Mb segmental deletion on the X chromosome causes meiotic failure in male miceA candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.Chromosomal abnormalities and schizophrenia.Neuropsychiatric disorders in the 22q11 deletion syndrome.Histology of the pharyngeal constrictor muscle in 22q11.2 deletion syndrome and non-syndromic children with velopharyngeal insufficiencyContribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.Prenatal diagnosis of the 22q11.2 deletion syndrome.The 22q11.2 deletion: from diversity to a single gene theory.Monogenic and chromosomal causes of isolated speech and language impairment.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three familiesIntergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndromeA defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillanceSingle nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis.Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial featuresImmunodeficiency and autoimmunity in 22q11.2 deletion syndrome.Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing countryA catalog of hemizygous variation in 127 22q11 deletion patients.22q11.2 deletion syndrome
P2860
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P2860
The annual incidence of DiGeorge/velocardiofacial syndrome.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
The annual incidence of DiGeorge/velocardiofacial syndrome.
@en
type
label
The annual incidence of DiGeorge/velocardiofacial syndrome.
@en
prefLabel
The annual incidence of DiGeorge/velocardiofacial syndrome.
@en
P2093
P2860
P356
P1476
The annual incidence of DiGeorge/velocardiofacial syndrome.
@en
P2093
Devriendt K
Keymolen K
van Thienen MN
P2860
P304
P356
10.1136/JMG.35.9.789-A
P407
P577
1998-09-01T00:00:00Z