Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementAtypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysisRubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity.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.Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisNovel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.The role of genetics in the establishment and maintenance of the epigenome.Disorders caused by chromosome abnormalities.The detection of large deletions or duplications in genomic DNA.Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationSyndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.p300/CBP and cancer.Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.Rubinstein-Taybi syndrome with agenesis of corpus callosum.Identification of disease genes by whole genome CGH arrays.X-linked mental retardation and epigenetics.The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse.When chromatin organisation floats astray: the Srcap gene and Floating-Harbor 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.Rubinstein-Taybi syndrome (CREBBP, EP300).Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia.Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
P2860
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P2860
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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Diagnostic analysis of the Rub ...... f protein truncating mutations
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Diagnostic analysis of the Rub ...... f protein truncating mutations
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Diagnostic analysis of the Rub ...... f protein truncating mutations
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Diagnostic analysis of the Rub ...... f protein truncating mutations
@en
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Diagnostic analysis of the Rub ...... f protein truncating mutations
@ast
Diagnostic analysis of the Rub ...... f protein truncating mutations
@en
P2093
P2860
P356
P1476
Diagnostic analysis of the Rub ...... f protein truncating mutations
@en
P2093
A van Haeringen
C D van Karnebeek
D J Peters
G J van Ommen
H G Dauwerse
J H Rubinstein
J J van der Smagt
M H Breuning
P2860
P304
P356
10.1136/JMG.37.3.168
P407
P577
2000-03-01T00:00:00Z