First report of prevalence of non‐syndromic hereditary prosopagnosia (HPA)
- I. Kennerknecht, T. Grueter, M. Grueter
- MedicineAmerican Journal of Medical Genetics. Part A
- 1 August 2006
This study provides epidemiological evidence that congenital PA is a very common cognitive disorder which almost always runs in families and is fully compatible with autosomal dominant inheritance.
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
- R. Lyle, F. Béna, S. Antonarakis
- Biology, MedicineEuropean Journal of Human Genetics
- 1 April 2009
A BAC array spanning HSA21q and array comparative genome hybridization (aCGH) is developed and used to enable high-resolution mapping of pathogenic partial aneuploidies and unbalanced translocations involving HSA 21 to argue against a single DS critical region.
Loss of K‐Cl co‐transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold
- T. Boettger, M. Rust, T. Jentsch
- Biology, MedicineEMBO Journal
- 15 October 2003
The present mouse model has revealed important cellular and systemic functions of KCC3 and is highly relevant for Anderman syndrome.
The Ion Channel Polycystin-2 Is Required for Left-Right Axis Determination in Mice
- P. Pennekamp, Christina Karcher, B. Dworniczak
- BiologyCurrent Biology
- 4 June 2002
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum
- H. Howard, D. Mount, G. Rouleau
- BiologyNature Genetics
- 1 November 2002
These findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC 12A6 in the development and maintenance of the nervous system.
An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice
- Milena Traykova-Brauch, K. Schönig, R. Koesters
- BiologyNature Network Boston
- 1 September 2008
A conditional knockout of the gene encoding tuberous sclerosis complex-1 was achieved, which resulted in the early outgrowth of giantpolycystic kidneys reminiscent of autosomal recessive polycystic kidney disease.
Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection--prevalence, types, sex distribution and reproductive relevance.
- D. Meschede, B. Lemcke, J. Horst
- Medicine, BiologyHuman Reproduction
- 1 March 1998
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
- T. Dörk, B. Dworniczak, M. Stuhrmann
- Biology, MedicineHuman Genetics
- 4 August 1997
It is shown that CAVD without renal malformation is a primary genital form of cystic fibrosis in the vast majority of German patients and links the particular expression of clinical symptoms in CAVD with a distinct subset of CFTR mutation genotypes.
Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar
- M. Summerer, J. Horst, A. Kloss-Brandstätter
- BiologyBMC Evolutionary Biology
- 28 January 2014
BackgroundMyanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing kingdoms and dynasties and…
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
- J. Smeitink, O. Elpeleg, E. Shoubridge
- BiologyAmerican Journal of Human Genetics
- 1 November 2006
The genetic basis for a mitochondrial protein-synthesis defect associated with a combined oxidative phosphorylation enzyme deficiency in two patients, one of whom presented with encephalomyopathy and the other with hypertrophic cardiomyopathy, is investigated and mutant EFTs are established as the cause of disease.
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