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- Publications
- Influence
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- Yutaka Shimomura, D. Agalliu, +9 authors A. Christiano
- Biology, Medicine
- Nature
- 15 April 2010
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterized by hair follicle miniaturization. Using genetic linkage analysis, we mapped a new locus for the disease… Expand
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
- D. Bartholdi, M. Krajewska-Walasek, +7 authors A. Baumer
- Biology, Medicine
- Journal of Medical Genetics
- 9 December 2008
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the… Expand
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
- N. Sandoval, M. Platzer, +14 authors D. Schindler
- Biology, Medicine
- Human molecular genetics
- 1999
Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in AT, designated… Expand
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
- D. Koolen, L. E. L. M. Vissers, +17 authors B. Vries
- Biology, Medicine
- Nature Genetics
- 4 September 2006
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31… Expand
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
- M. Riegel, A. Baumer, +4 authors A. Schinzel
- Biology, Medicine
- Human Genetics
- 25 August 2001
Unbalanced submicroscopic subtelomeric chromosomal rearrangements represent a significant cause of unexplained moderate to severe mental retardation with and without phenotypic abnormalities. We… Expand
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
- E. Rossi, M. Riegel, +13 authors O. Zuffardi
- Biology, Medicine
- Journal of Medical Genetics
- 15 November 2007
Background and methods: Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been detected and the… Expand
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
- C. Templin, Jelena-Rima Ghadri, +12 authors F. Duru
- Medicine
- European heart journal
- 1 May 2011
AIMS
Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes… Expand
Clinical and genetic heterogeneity in Meckel syndrome
- P. Paavola, R. Salonen, +8 authors L. Peltonen
- Biology, Medicine
- Human Genetics
- 8 October 1997
Abstract Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have… Expand
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
- A. Sharp, E. Migliavacca, +11 authors S. Antonarakis
- Biology, Medicine
- Genome research
- 1 September 2010
The maternal and paternal genomes possess distinct epigenetic marks that distinguish them at imprinted loci. In order to identify imprinted loci, we used a novel method, taking advantage of the fact… Expand
Maternal uniparental disomy 7 – review and further delineation of the phenotype
- D. Kotzot, D. Balmer, +9 authors A. Schinzel
- Biology, Medicine
- European Journal of Pediatrics
- 9 March 2000
Abstract Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new… Expand