MMG PUBLICATIONS

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Results: 3193  publications found.

Cerino, M.  et al. 2015

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

BACKGROUND: GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a...
J Neuromuscul Dis - issue: 2 - volume: 2 - pages: 131-136.

Cerino, M.  et al. 2015

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

BACKGROUND: GNE myopathy is a rare autosomal recessively inherited muscle disease resulting from mutations in the gene encoding GNE (UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase), a...
J Neuromuscul Dis - issue: 2 - volume: 2 - pages: 131-136.

van Kuilenburg, ABP.  et al. 2015

Frequent intragenic rearrangements of DPYD in colorectal tumours

Dihydropyrimidine dehydrogenase is a crucial enzyme for the degradation of 5-fluorouracil (5FU). DPYD, which encodes dihydropyrimidine dehydrogenase, is prone to acquire genomic rearrangements because...
Pharmacogenomics J. - issue: 3 - volume: 15 - pages: 211-218.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Aretz, S.  et al. 2015

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014

Eur. J. Hum. Genet. - issue: 6 - volume: 23 - pages: .

Roca, E.  et al. 2015

Detection of procoagulant and profibrinolytic epcam-positive microparticles in pleural fluid: a new approach for the diagnosis of the tumoral origin of pleural effusions

WOS:000356426902034
J. Thromb. Haemost. - issue: - volume: 13 - pages: 215-215.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Petersenn, S.  et al. 2015

Therapy of endocrine disease: outcomes in patients with Cushing's disease undergoing transsphenoidal surgery: systematic review assessing criteria used to define remission and recurrence

OBJECTIVE: A number of factors can influence the reported outcomes of transsphenoidal surgery (TSS) for Cushing's disease - including different remission and recurrence criteria, for which there is no...
Eur. J. Endocrinol. - issue: 6 - volume: 172 - pages: R227-239.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Bouvattier, C.  et al. 2015

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

CONTEXT: Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men. OBJECTIVE: The objective was to...
J. Clin. Endocrinol. Metab. - issue: 6 - volume: 100 - pages: 2303-2313.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: - volume: 138 - pages: 1505-1517.

Aretz, S.  et al. 2015

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014

Eur. J. Hum. Genet. - issue: 6 - volume: 23 - pages: .

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: Pt 6 - volume: 138 - pages: 1505-1517.

Jobling, RK.  et al. 2015

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients...
Brain - issue: - volume: 138 - pages: 1505-1517.

Nakamura, Y.  et al. 2015

Mesenchymal-stem-cell-derived exosomes accelerate skeletal muscle regeneration

Mesenchymal stem cell (MSC) transplantation is used for treatment of many diseases. The paracrine role of MSCs in tissue regeneration is attracting particular attention. We investigate the role of MSC...
FEBS Lett. - issue: 11 - volume: 589 - pages: 1257-1265.

Niceta, M.  et al. 2015

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis,...
Am. J. Hum. Genet. - issue: 5 - volume: 96 - pages: 816-825.

Joly, P.  et al. 2015

[Information for parents of children with sickle cell trait detected by neonatal screening: A 10-year experience]

Arch Pediatr - issue: 5 - volume: 22 - pages: 562-563.

Nguyen, K.  et al. 2015

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique...
Clin. Genet. - issue: 5 - volume: 87 - pages: 488-491.