PUBLICATIONS of MMG

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Résultats : 4167  publications trouvées.

Ciofi P, .  et al. 0

Andrieu D

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S., .  et al. 0

D.; Mattei

many cases have still not been explained. METHODS: We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segregating in a family where two male carriers have severe MR...
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F., .  et al. 0

A.; Belougne

M.; Lacombe
- issue: inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each - volume: - pages: M.";Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.;Journal of medical genetics;;0022-2593 1468-6244;;;We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and .

Julien, .  et al. 0

Marie; Altuzarra

Laure; Lesca
have repeatedly been associated with developmental and epileptic encephalopathy-47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome. We aim to refine the electroclinical phenotype and outcomes of 10 unpublished patients (2-38 years o - issue: Mathieu; Desnous - volume: Béatrice";Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.;Epilepsia;;1528-1167 0013-9580;10.1111/epi.18495;;"Th - pages: Stéphanie; Villard.

L., .  et al. 0

Y.";Ribotyping of Staphylococcus caprae isolated from goat milk.;Veterinary research;;0928-4249;;;The usefulness of the API-STAPH system and a method based on ribosomal fingerprinting was evaluated by studying 89 coagulase-negative staphylococci isolated from goat milk. The bacteria were supposed to belong to the species Staphylococcus caprae. The results obtained from the API-STAPH system showed variations in their phenotypic features. DNA cleavage with EcoRI yielded six ribotypes and three distinct patterns were generated when the DNA of the strains was digested with HindIII. Forty-six strains were correctly characterized as S. caprae by the two methods. In addition

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Garel C, .  et al. 0

Chantot-Bastaraud S

Faivre L
Roubertie A - issue: Moutard ML - volume: Riant F - pages: Lacombe D.

the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.", .  et al. 0

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a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

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whereas p.(Arg52His) cases had gradual onset. All developed epilepsy before 5 months, .  et al. 0

with 70% achieving seizure remission by 6 months with antiseizure medication (ASM)

and neurodevelopmental outcome. Here
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, .  et al. 0

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Graillon, T.  et al. 0

Surgical indications for pituitary tumors during pregnancy: a literature review

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, .  et al. 0

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E., .  et al. 0

L.; Gecz

the breakpoint is approximately 134 kb from the 5' end of the androgen receptor (AR) gene. CONCLUSIONS: Genetic defec
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, .  et al. 0

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, .  et al. 0

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both for their highly reduced sizes and their reliable gene predictions., .  et al. 0

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Pfundt R, .  et al. 0

Busa T

Gatinois V
Nadeau G - issue: Marlin S - volume: Verloes A - pages: Khau Van Kien P.

, .  et al. 0

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L., .  et al. 0

C.; Cardoso

spastic paraplegia and skewed pattern of X inactivation;;;;;;;eng;;;;;PubMed;;PMID: 10417298 PMCID: PMC1377954
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cancer genetic predisposition (CGP) and cancers. PFMG2025 has addressed numerous challenges to set up an operational organizational framework. As of December the 31st 2023, .  et al. 0

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