User profiles for K. Dieterich
Klaus DieterichVerified email at chu-grenoble.fr Cited by 2608 |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
…, B Demeer, D Descamps, G Didelot, K Dieterich… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …
Developmental neurotoxicants in e-waste: an emerging health concern
A Chen, KN Dietrich, X Huo, S Ho - Environmental health …, 2011 - ehp.niehs.nih.gov
Objective Electronic waste (e-waste) has been an emerging environmental health issue in
both developed and developing countries, but its current management practice may result in …
both developed and developing countries, but its current management practice may result in …
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
K Dieterich, R Soto Rifo, AK Faure, S Hennebicq… - Nature …, 2007 - nature.com
The World Health Organization conservatively estimates that 80 million people suffer from
infertility worldwide. Male factors are believed to be responsible for 20–50% of all infertility …
infertility worldwide. Male factors are believed to be responsible for 20–50% of all infertility …
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
…, N Hauser, YA Zarate, KA Bosanko, K Dieterich… - Genetics in …, 2020 - nature.com
Purpose Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome
are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called …
are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called …
Classification of arthrogryposis
JG Hall, E Kimber, K Dieterich - American Journal of Medical …, 2019 - Wiley Online Library
There is a need for a system to classify various forms of arthrogryposis. None is satisfactory
or complete. Nevertheless, several have been developed to meet the needs of clinicians, …
or complete. Nevertheless, several have been developed to meet the needs of clinicians, …
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies
…, F Demurger, I Desguerre, K Dieterich… - Circulation, 2019 - Am Heart Assoc
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia
(VTA) in patients with LMNA mutations is crucial to select candidates for implantable …
(VTA) in patients with LMNA mutations is crucial to select candidates for implantable …
Molecular classification of cutaneous malignant melanoma by gene expression profiling
…, P Pollock, J Carpten, E Gillanders, D Leja, K Dietrich… - Nature, 2000 - nature.com
The most common human cancers are malignant neoplasms of the skin 1 , 2 . Incidence of
cutaneous melanoma is rising especially steeply, with minimal progress in non-surgical …
cutaneous melanoma is rising especially steeply, with minimal progress in non-surgical …
Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
…, GA Grabowski, RJ Richardson, K Dieterich… - Journal of medical …, 2015 - jmg.bmj.com
Background Oliver–McFarlane syndrome is characterised by trichomegaly, congenital
hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome …
hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome …
Erratum:“Low-level environmental lead exposure and children's intellectual function: an international pooled analysis”
…, DC Bellinger, RL Canfield, KN Dietrich… - Environmental …, 2019 - ehp.niehs.nih.gov
Lead is a confirmed neurotoxin, but questions remain about lead-associated intellectual
deficits at blood lead levels< 10lg/dL and whether lower exposures are, for a given change in …
deficits at blood lead levels< 10lg/dL and whether lower exposures are, for a given change in …
The Aurora Kinase C c. 144delC mutation causes meiosis I arrest in men and is frequent in the North African population
K Dieterich, R Zouari, R Harbuz… - Human Molecular …, 2009 - academic.oup.com
Infertility concerns a minimum of 70 million couples worldwide. An important proportion of
cases is believed to have a genetic component, yet few causal genes have been identified so …
cases is believed to have a genetic component, yet few causal genes have been identified so …