Cerebral cavernous malformation: new molecular and clinical insights
Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological
problems, such as headaches, seizures, focal neurological deficits, and cerebral …
problems, such as headaches, seizures, focal neurological deficits, and cerebral …
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
After their successful introduction in postnatal testing, genome-wide arrays are now rapidly
replacing conventional karyotyping in prenatal diagnostics. While previous studies have …
replacing conventional karyotyping in prenatal diagnostics. While previous studies have …
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial
features and multiple congenital malformations; most affected individuals die before the age …
features and multiple congenital malformations; most affected individuals die before the age …
[HTML][HTML] Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
…, V Navarro, E Okenfuss, A Puel, N Revencu… - Journal of clinical …, 2016 - Springer
Purpose Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by
biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and …
biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and …
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
Capillary malformation‐arteriovenous malformation (CM‐AVM) is a newly recognized
autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here …
autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here …
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal‐dominant
disorder, caused by heterozygous RASA 1 mutations, and manifesting multifocal CM s and …
disorder, caused by heterozygous RASA 1 mutations, and manifesting multifocal CM s and …
[HTML][HTML] How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …
Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK …
Background: Most arteriovenous malformations (AVMs) are localized and occur
sporadically. However, they also can be multifocal in autosomal-dominant disorders, such …
sporadically. However, they also can be multifocal in autosomal-dominant disorders, such …
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
Abstract Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct
facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and …
facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and …
[HTML][HTML] Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with …
…, S Daack-Hirsch, O Boute, B Bayet, N Revencu… - Genetics in …, 2009 - nature.com
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription
factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal …
factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal …