MMG PUBLICATIONS

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Results: 1269  publications found.

Kherraf, Z.  et al. 2017

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic...
EMBO Mol Med - issue: - volume: - pages: .


Elkhatib, RA.  et al. 2017

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes acephalic spermatozoa syndrome. Consistent with this,...
Hum. Mol. Genet. - issue: - volume: - pages: .


Elkhatib, RA.  et al. 2017

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes acephalic spermatozoa syndrome. Consistent with this,...
Hum. Mol. Genet. - issue: - volume: - pages: .


Sauvestre, F.  et al. 2017

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation

Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies,...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .


Cheema, WA.  et al. 2017

Effect of medium-pressure UV-lamp treatment on disinfection by-products in chlorinated seawater swimming pool waters

Several brominated disinfection by-products (DBPs) are formed in chlorinated seawater pools, due to the high concentration of bromide in seawater. UV irradiation is increasingly employed in freshwater...
Sci. Total Environ. - issue: - volume: 599-600 - pages: 910-917.


Sauvestre, F.  et al. 2017

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation

Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies,...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .


Cheema, WA.  et al. 2017

Effect of medium-pressure UV-lamp treatment on disinfection by-products in chlorinated seawater swimming pool waters

Several brominated disinfection by-products (DBPs) are formed in chlorinated seawater pools, due to the high concentration of bromide in seawater. UV irradiation is increasingly employed in freshwater...
Sci. Total Environ. - issue: - volume: 599-600 - pages: 910-917.


Sauvestre, F.  et al. 2017

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation

Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies,...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .


Cheema, WA.  et al. 2017

Effect of medium-pressure UV-lamp treatment on disinfection by-products in chlorinated seawater swimming pool waters

Several brominated disinfection by-products (DBPs) are formed in chlorinated seawater pools, due to the high concentration of bromide in seawater. UV irradiation is increasingly employed in freshwater...
Sci. Total Environ. - issue: - volume: 599-600 - pages: 910-917.


Fatehi, F.  et al. 2017

Motor unit number index (MUNIX) in patients with anti-MAG neuropathy

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.


Fatehi, F.  et al. 2017

Motor unit number index (MUNIX) in patients with anti-MAG neuropathy

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.


Fatehi, F.  et al. 2017

Motor unit number index (MUNIX) in patients with anti-MAG neuropathy

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.


Corrigan, S.  et al. 2017

Historical introgression drives pervasive mitochondrial admixture between two species of pelagic sharks

We use a genomic sampling of both nuclear and mitochondrial DNA markers to examine a pattern of genetic admixture between Carcharhinus galapagensis (Galapagos sharks) and Carcharhinus obscurus (dusky...
Mol. Phylogenet. Evol. - issue: - volume: 110 - pages: 122-126.


González, W.  et al. 2017

Theoretical dosimetric evaluation of carbon and oxygen minibeam radiation therapy

PURPOSE: Charged particles have several advantages over x-ray radiations, both in terms of physics and radiobiology. The combination of these advantages with those of minibeam radiation therapy (MBRT)...
Med Phys - issue: 5 - volume: 44 - pages: 1921-1929.


Juge, P.  et al. 2017

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF)...
Eur. Respir. J. - issue: 5 - volume: 49 - pages: .


Roubertoux, PL.  et al. 2017

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial...
Behav. Genet. - issue: 3 - volume: 47 - pages: 305-322.


Roubertoux, PL.  et al. 2017

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial...
Behav. Genet. - issue: 3 - volume: 47 - pages: 305-322.


Corrigan, S.  et al. 2017

Historical introgression drives pervasive mitochondrial admixture between two species of pelagic sharks

We use a genomic sampling of both nuclear and mitochondrial DNA markers to examine a pattern of genetic admixture between Carcharhinus galapagensis (Galapagos sharks) and Carcharhinus obscurus (dusky...
Mol. Phylogenet. Evol. - issue: - volume: 110 - pages: 122-126.


Ronin, C.  et al. 2017

Antenatal prognostic factor of fetal echogenic bowel

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.


Ronin, C.  et al. 2017

Antenatal prognostic factor of fetal echogenic bowel

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.