MMG PUBLICATIONS

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Results: 1238  publications found.

Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.


Castinetti, F.  et al. 2017

Gamma Knife radiosurgery for hypothalamic hamartoma preserves endocrine functions

Gamma Knife radiosurgery (GK) is an effective treatment for hypothalamic hamartoma. No precise data are available on the risk of endocrine side effects of this treatment. In this study, 34 patients...
Epilepsia - issue: - volume: 58 Suppl 2 - pages: 72-76.


Yentrapalli, R.  et al. 2017

Quantitative changes in the protein and miRNA cargo of plasma exosome-like vesicles after exposure to ionizing radiation

PURPOSE: Multiple cell types secrete exosome-like extracellular vesicles (ELVs) to the extracellular environment. Pathological conditions can produce characteristic changes to the vesicle cargo. We...
Int. J. Radiat. Biol. - issue: 6 - volume: 93 - pages: 569-580.


Brue, T.  et al. 2017

Lessons from monogenic causes of growth hormone deficiency

Through the multicentric international GENHYPOPIT network, 10 transcription factor genes involved in pituitary development have been screened in more than 1200 patients with constitutional...
Ann. Endocrinol. (Paris) - issue: 2 - volume: 78 - pages: 77-79.


Elouej, S.  et al. 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a...
Metab. Clin. Exp. - issue: - volume: 71 - pages: 213-225.


Yentrapalli, R.  et al. 2017

Quantitative changes in the protein and miRNA cargo of plasma exosome-like vesicles after exposure to ionizing radiation

PURPOSE: Multiple cell types secrete exosome-like extracellular vesicles (ELVs) to the extracellular environment. Pathological conditions can produce characteristic changes to the vesicle cargo. We...
Int. J. Radiat. Biol. - issue: 6 - volume: 93 - pages: 569-580.


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: .


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: .


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: .


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.