PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Vernengo, L.  et al. 2011

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Primary dysferlinopathies are a group of recessive heterogeneous muscular dystrophies. The most common clinical presentations are Miyoshi myopathy and LGMD2B. Additional presentations range from...
Neuromuscul. Disord. - issue: 5 - volume: 21 - pages: 328-337.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

Mégarbané, A.  et al. 2011

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome

We report on two siblings with hypotonia, ambiguous genitalia, microcephaly, ptosis, microretrognathia, thin lips, seizures, absent ossification of pubic rami, and brain abnormalities at the MRI. The...
Am. J. Med. Genet. A - issue: 5 - volume: 155A - pages: 1147-1151.

Ortolano, S.  et al. 2011

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage...
Neuromuscul. Disord. - issue: 4 - volume: 21 - pages: 254-262.

Merono, F.  et al. 2011

Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode

OBJECTIVES: The analytical performances of a new kit conceived for Hb variants separation and measurement procedures on an HPLC instrument (Tosoh HLC-723 G8) were studied. RESULTS: Between-run and...
Clin. Biochem. - issue: 5-6 - volume: 44 - pages: 441-443.

Ravel, A.  et al. 2011

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some...
Am. J. Med. Genet. A - issue: 4 - volume: 155A - pages: 880-884.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Mégarbané, A.  et al. 2011

[Is good genetic counseling possible with good ethical principals?]

A good genetic counseling, followed by appropriate examinations, sometimes requires the participation of any family members--parents, grandparents, aunts, uncles, cousins--thus leading to accurate...
J Med Liban - issue: 1 - volume: 59 - pages: 23-26.

Medlej-Hashim, M.  et al. 2011

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was...
Eur J Med Genet - issue: 1 - volume: 54 - pages: 50-54.

Chouery, E.  et al. 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic...
Neurogenetics - issue: 1 - volume: 12 - pages: 73-78.

Chouery, E.  et al. 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic...
Neurogenetics - issue: 1 - volume: 12 - pages: 73-78.

Bruyneel, A.  et al. 2011

Idiopathic scoliosis: relations between the Cobb angle and the dynamical strategies when sitting on a seesaw

The aim of this study was to determine the influence of the severity of the spinal curve on the postural regulation when self-imposed disturbances occur in a seated position in anteroposterior (AP)...
Eur Spine J - issue: 2 - volume: 20 - pages: 247-253.

Panayotis, N.  et al. 2011

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene, in which older patients often develop parkinsonian features. Although Mecp2 has been shown to modulate the...
Neurobiol. Dis. - issue: 2 - volume: 41 - pages: 385-397.

Medlej-Hashim, M.  et al. 2011

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

Familial Mediterranean fever (FMF) is an autoinflammatory autosomal recessive disease characterized by recurrent fever crises and serous inflammation. The MEFV gene responsible for the disease was...
Eur J Med Genet - issue: 1 - volume: 54 - pages: 50-54.

Panayotis, N.  et al. 2011

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene, in which older patients often develop parkinsonian features. Although Mecp2 has been shown to modulate the...
Neurobiol. Dis. - issue: 2 - volume: 41 - pages: 385-397.

Sleimen-Malkoun, R.  et al. 2011

Bimanual training in stroke: How do coupling and symmetry-breaking matter?

BACKGROUND: The dramatic consequences of stroke on patient autonomy in daily living activities urged the need for new reliable therapeutic strategies. Recently, bimanual training has emerged as a...
BMC Neurol - issue: - volume: 11 - pages: 11.

Wilkie, GS.  et al. 2011

Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations

Nuclear envelopes from liver and a neuroblastoma cell line have previously been analyzed by proteomics; however, most diseases associated with the nuclear envelope affect muscle. To determine whether...
Mol. Cell Proteomics - issue: 1 - volume: 10 - pages: M110.003129.

Pratte, M.  et al. 2011

Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice

The methyl-CpG binding protein 2 (Mecp2) gene encodes a nuclear transcriptional modulator highly expressed in post-mitotic neurons. Mutations of this gene cause a large spectrum of neurological...
Behav. Brain Res. - issue: 1 - volume: 216 - pages: 313-320.