Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

Human growth is a complex process that requires the appropriate interaction of many
players. Central members in the growth pathways are regulated epigenetically and thereby …

Background Hereditary peripheral neuropathies constitute a large group of genetic
diseases, with an overall prevalence of 1: 2500. In recent years, the use of so-called next …

Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal
muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for …

Background Spinal muscular atrophy (SMA) is the most common neurodegenerative
disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis …

We present clinical features and genetic results of 1206 index patients and 124 affected
relatives who were referred for genetic testing of Charcot–Marie–Tooth (CMT) neuropathy at …

We reviewed the natural history and assessed the SMN2 copy number of 66 patients with
infantile spinal muscular atrophy (SMA) type I born between 2000 and 2005 in Germany …

We report studies on the etiology of uniparental disomy (UPD) in Silver-Russell syndrome
(SRS) patients. Thirty-seven SRS families were typed with short tandem repeat markers from …

Molecular genetic testing for the 11p15-associated imprinting disorders Silver–Russell and
Beckwith–Wiedemann syndrome (SRS, BWS) is challenging because of the molecular …

Background: Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome
characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and …