BACKGROUND: Deletion of the entire AZFb interval from the Y chromosome is strictly associated with azoospermia arising from maturation arrest during meiosis. Here, we describe the exceptional case of...
Hum. Reprod. - issue: 10 - volume: 25 - pages: 2655-2663.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci. Transl. Med. - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a severe reduction of dysferlin, a key protein in sarcolemmal repair....
Sci Transl Med - issue: 50 - volume: 2 - pages: 50ra69.

BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood....
PLoS ONE - issue: 9 - volume: 5 - pages: .

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970.

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

AIMS: To describe a new molecular technique for the assessment of fungal diversity in the air. METHODS AND RESULTS: Air samples were collected every week in a henhouse in France during a 15-week...
J. Appl. Microbiol. - issue: 3 - volume: 109 - pages: 910-917.

Eur. J. Hum. Genet. - issue: 9 - volume: 18 - pages: 969-970; author reply 971.

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

BACKGROUND: The dynamics behavior of patients with idiopathic scoliosis obviously requires some biomechanical compensatory strategies. Our objective is to analyze the ground reaction forces (GRF)...
Ann Phys Rehabil Med - issue: 6-7 - volume: 53 - pages: 372-386.

Human telomeres are protected from DNA damage by a nucleoprotein complex that includes the repeat-binding factor TRF2. Here, we report that TRF2 regulates the 5' exonuclease activity of its binding...
Cell - issue: 2 - volume: 142 - pages: 230-242.

While modeling the trapeziometacarpal (TMC) joint for determination of tendon forces, the TMC has been considered frictionless and passive moments created by soft tissues neglected. This, however,...
J Biomech Eng - issue: 7 - volume: 132 - pages: 071009.