8 Result(s)
within
Luitgard Graul-Neumann
English
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Article
Open AccessGenome sequencing in families with congenital limb malformations
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all gene...
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Article
Open AccessOral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-co...
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Article
Open AccessFormation of upd(7)mat by trisomic rescue: SNP array ty** provides new insights in chromosomal nondisjunction
Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have...
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Article
Open AccessPhenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To furthe...
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Article
Open Access47 patients with FLNA associated periventricular nodular heterotopia
Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to ini...
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Article
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Nat. Genet. 47 803–808 (2015); published online 25 May 2015; corrected after print 8 July 2015 In the version of this article initially published, there was an error with the affiliations for author Roman Chra...
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Article
Transcriptional regulator PRDM12 is essential for human pain perception
Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and part...
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Article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Jaonna Jen and colleagues identify mutations in EXOSC3, encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive disorder with heterogeneous defects in brain developmen...
