MMG PUBLICATIONS

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Results: 3220  publications found.

Thompson, R.  et al. 2014

RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research

Research into rare diseases is typically fragmented by data type and disease. Individual efforts often have poor interoperability and do not systematically connect data across clinical phenotype,...
J. Gen. Intern. Med. - issue: - volume: 29 - pages: S780-S787.

Hadj-Rabia, S.  et al. 2014

A new lamin a mutation associated with acrogeria syndrome

J. Invest. Dermatol. - issue: 8 - volume: 134 - pages: 2274-2277.

Wollman, I.  et al. 2014

Influence of vibrotactile feedback on some perceptual features of violins

This paper investigated how auditory and vibrotactile feedback information is integrated within the context of violin quality evaluation. Fifteen violinists evaluated three violins on four...
J. Acoust. Soc. Am. - issue: 2 - volume: 136 - pages: 910-921.

Navarro, CL.  et al. 2014

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density...
Eur. J. Hum. Genet. - issue: 8 - volume: 22 - pages: 1002-1011.

Navarro, CL.  et al. 2014

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density...
Eur. J. Hum. Genet. - issue: 8 - volume: 22 - pages: 1002-1011.

Anderson, ME.  et al. 2014

Embryonic Stem Cell-Derived Cardiac Myocytes Are Not Ready for Human Trials

WOS:000339272700004
Circ.Res. - issue: 3 - volume: 115 - pages: 335-338.

Anderson, ME.  et al. 2014

Embryonic stem cell-derived cardiac myocytes are not ready for human trials

Circ. Res. - issue: 3 - volume: 115 - pages: 335-338.

Anderson, ME.  et al. 2014

Embryonic stem cell-derived cardiac myocytes are not ready for human trials

Circ Res - issue: 3 - volume: 115 - pages: 335-338.

Anderson, ME.  et al. 2014

Embryonic stem cell-derived cardiac myocytes are not ready for human trials

Circ. Res. - issue: 3 - volume: 115 - pages: 335-338.

Rochais, F.  et al. 2014

FGF10 regulates regional proliferation in the fetal heart through a FOXO3/p27kip1 pathway and promotes cell cycle reentry of adult cardiomyocytes

WOS:000343730100241
Cardiovasc. Res. - issue: - volume: 103 - pages: .

Thevenon, J.  et al. 2014

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay,...
Am. J. Hum. Genet. - issue: 1 - volume: 95 - pages: 113-120.

Thevenon, J.  et al. 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay,...
Am. J. Hum. Genet. - issue: 1 - volume: 95 - pages: 113-120.

Nozières, C.  et al. 2014

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

CONTEXT: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 133-140.

Abdi, L.  et al. 2014

A monocentric experience of growth hormone replacement therapy in adult patients

OBJECTIVES: To describe the results of growth hormone (GH) therapy in adult GH-deficient patients treated in a tertiary referral center, with a focus on quality of life and adherence. PATIENTS AND...
Ann. Endocrinol. (Paris) - issue: 3 - volume: 75 - pages: 176-183.

Defour, A.  et al. 2014

Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion

Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for...
Cell Death Dis - issue: - volume: 5 - pages: e1306.

Vernet, N.  et al. 2014

Mouse Y-linked Zfy1 and Zfy2 are expressed during the male-specific interphase between meiosis I and meiosis II and promote the 2nd meiotic division

Mouse Zfy1 and Zfy2 encode zinc finger transcription factors that map to the short arm of the Y chromosome (Yp). They have previously been shown to promote meiotic quality control during pachytene...
PLoS Genet. - issue: 6 - volume: 10 - pages: e1004444.

Jung, L.  et al. 2014

ONSL and OSKM cocktails act synergistically in reprogramming human somatic cells into induced pluripotent stem cells

The advent of human induced pluripotent stem cells (hiPSC) is revolutionizing many research fields including cell-replacement therapy, drug screening, physiopathology of specific diseases and more...
Mol. Hum. Reprod. - issue: 6 - volume: 20 - pages: 538-549.

Badens, C.  et al. 2014

Complex Diagnostics in Hemoglobinopathies

WOS:000337244300037
Int. J. Lab. Hematol. - issue: - volume: 36 - pages: 15-16.

Vernet, N.  et al. 2014

Mouse Y-linked Zfy1 and Zfy2 are expressed during the male-specific interphase between meiosis I and meiosis II and promote the 2nd meiotic division

Mouse Zfy1 and Zfy2 encode zinc finger transcription factors that map to the short arm of the Y chromosome (Yp). They have previously been shown to promote meiotic quality control during pachytene...
PLoS Genet. - issue: 6 - volume: 10 - pages: e1004444.

Defour, A.  et al. 2014

Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion

Dysferlin deficiency compromises the repair of injured muscle, but the underlying cellular mechanism remains elusive. To study this phenomenon, we have developed mouse and human myoblast models for...
Cell Death Dis. - issue: - volume: 5 - pages: e1306.