Search Results - "Ma van Ravenswaaij, Conny"
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1
Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
Published in eLife (24-12-2013)“…Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with an estimated prevalence of 1/15,000. We have little understanding…”
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2
Study of smell and reproductive organs in a mouse model for CHARGE syndrome
Published in European journal of human genetics : EJHG (01-02-2010)“…CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or…”
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3
CHARGE syndrome: a review of the immunological aspects
Published in European journal of human genetics : EJHG (18-02-2015)Get full text
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4
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Published in Nature genetics (01-09-2004)“…CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping…”
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5
Mutation update on the CHD7 gene involved in CHARGE syndrome
Published in Human mutation (01-08-2012)“…CHD7 is a member of the chromodomain helicase DNA‐binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling…”
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6
Clinical utility gene card for: CHARGE syndrome - update 2015
Published in European journal of human genetics : EJHG (01-11-2015)Get full text
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7
Diagnostic interpretation of array data using public databases and internet sources
Published in Human mutation (01-06-2012)“…The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of…”
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8
CHARGE syndrome: a review of the immunological aspects
Published in European journal of human genetics : EJHG (01-11-2015)“…CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic…”
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9
The introduction of arrays in prenatal diagnosis: A special challenge
Published in Human mutation (01-06-2012)“…Genome‐wide arrays are rapidly replacing conventional karyotyping in postnatal cytogenetic diagnostics and there is a growing request for arrays in the…”
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A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin
Published in European journal of medical genetics (01-06-2020)“…Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has…”
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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Published in Human mutation (01-08-2012)“…CHARGE syndrome is characterized by the variable occurrence of multisensory impairment, congenital anomalies, and developmental delay, and is caused by…”
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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
Published in American journal of medical genetics. Part A (01-10-2016)“…Mutations in CREBBP cause Rubinstein–Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11…”
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13
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics
Published in European journal of human genetics : EJHG (01-02-2012)“…The correct interpretation of copy number gains in patients with developmental delay and multiple congenital anomalies is hampered by the large number of copy…”
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14
A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs
Published in Statistical Methods in Medical Research (01-04-2017)“…This paper compares the power of the parallel group design, the matched-pairs design, and several options for the stepped wedge and delayed start designs for…”
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15
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
Published in European journal of human genetics : EJHG (01-05-2010)“…Characterisation of breakpoints in disease-associated balanced chromosome rearrangements (DBCRs), which disrupt or inactivate specific genes, has facilitated…”
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16
Duplication 2p25 in a child with clinical features of CHARGE syndrome
Published in American journal of medical genetics. Part A (01-05-2016)“…CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital…”
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17
Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
Published in American journal of human genetics (09-12-2011)“…Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is…”
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18
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
Published in European journal of human genetics : EJHG (01-08-2016)“…CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual…”
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Published in American journal of medical genetics. Part A (01-11-2011)“…A partial deletion of chromosome band 2p25.3 (2pter) is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Using…”
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Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
Published in American journal of medical genetics. Part A (01-11-2014)“…Microdeletions of the 5q11.2 region are rare; in literature only two patients with a deletion in this region have been reported so far. In this study, we…”
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