FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
about
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionRubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseCharacterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.Risk factors for heart disease associated with abnormal sidedness.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisProximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome.Epigenetic mechanisms of Rubinstein-Taybi syndrome.The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein-Taybi Syndrome.From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations.Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndromeTwo novel deletions (array CGH findings) in pigment dispersion syndrome.Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails.Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.Benign and malignant tumors in Rubinstein-Taybi syndrome.Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
P2860
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P2860
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@ast
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@en
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@nl
type
label
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@ast
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@en
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@nl
prefLabel
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@ast
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@en
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@nl
P2093
P356
P1476
FISH studies in 45 patients wi ...... ft heart and death in infancy.
@en
P2093
B Schmalenberger
F Majewski
G K Hinkel
P2888
P304
P356
10.1038/SJ.EJHG.5200378
P577
1999-10-01T00:00:00Z