Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
about
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersVACTERL/VATER AssociationCorpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndromePractical guidelines for managing patients with 22q11.2 deletion syndromeVerification of speech spectrum audibility for pediatric Baha Softband users with craniofacial anomaliesA new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome.Velo-cardio-facial syndrome: 30 Years of study.Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.Phenotype of adults with the 22q11 deletion syndrome: A reviewPrenatal diagnosis of the 22q11.2 deletion syndrome.Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion.A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromeQualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.Failure to thrive as presentation in a patient with 22q11.2 microdeletion.Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.22q11.2 deletion syndromeAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Ubiquitin fusion degradation protein 1 as a blood marker for the early diagnosis of ischemic strokeDevelopmental trajectories in 22q11.2 deletion.Immunological aspects of 22q11.2 deletion syndrome.Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis.The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome.Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.How many breaks do we need to CATCH on 22q11?A Hirschsprung disease locus at 22q11?Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion.Communication issues in 22q11.2 deletion syndrome: children at risk.Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome.
P2860
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P2860
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
@en
type
label
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
@en
prefLabel
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
@en
P2093
P356
P1476
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion
@en
P2093
Christensen K
Driscoll DA
McDonald-McGinn DM
P304
P356
10.1002/AJMG.1320590122
P577
1995-10-01T00:00:00Z