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Your search keyword '"Le Marec B"' showing total 4 results
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4 results on '"Le Marec B"'

1. Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Author

FERRANTE M. I, GIORGIO G, FEATHER S. A, BULFONE A, WRIGHT V, GHIANI M, SELICORNI A, GAMMARO L, SCOLARI F, WOOLF A. S, ODENT S, LE MAREC B, MALCOLM S, WINTER R, A, FRANCO, BRUNELLA, BALLABIO, ANDREA, FERRANTE M., I, Giorgio, G, FEATHER S., A, Bulfone, A, Wright, V, Ghiani, M, Selicorni, A, Gammaro, L, Scolari, F, WOOLF A., S, Odent, S, LE MAREC, B, Malcolm, S, Winter, R, Ballabio, Andrea, A, and Franco, Brunella

Published
2001

2. Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases

Author

Hubert Journel, Lucas J, Jouan H, Roussey M, Le Mée F, Le Marec B, Defawe G, Lecornu M, and C. Allaire

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Monosomy, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Trisomy, Biology, Translocation, Genetic, Internal medicine, Genetics, medicine, Macroglossia, Humans, Chromosomes, Human, 4-5, Hypertelorism, Genetics (clinical), Chromosomes, Human, 6-12 and X, Infant, Newborn, medicine.disease, Gigantism, Umbilical hernia, Chromosome Banding, Endocrinology, Atresia, Child, Preschool, Karyotyping, Female, medicine.symptom
Abstract

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.

Published
1984

3. SHFM3 is associated with a genomic rearrangement in 10q24

Author

Mollerat, Xj, Everman, Db, Gurrieri, F., Morgan, Ct, Sangiorgi, E., Gaspari, P., Ameil, J., Bamshad, Mj, Lyle, R., Allanson, Je, Le Marec, B., J.H.L.M. (Hans) van Bokhoven, Braverman, Ne, Radhakrishna, U., Elghouzzi, V., Antonarakis, S., Stevenson, Re, Munnich, A., Neri, G., and Schwartz, Ce

4. [Comparative study of the administration of amikacin by intramuscular and intravenous routes in neonatal resuscitation]

Author

Deramoudt-Dutrus V, Betremieux P, Lefrançois C, yannick Malledant, Jl, Avril, and Le Marec B

Subjects
Intensive Care Units, Neonatal, Injections, Intravenous, Infant, Newborn, Humans, Ear, Bacterial Infections, Prospective Studies, Kidney, Amikacin, Injections, Intramuscular
Abstract

A study was carried out to determine amikacin blood levels in 44 neonates who were admitted to a Pediatric Intensive Care Unit. Amikacin was administered by intravenous or intramuscular route. The levels obtained with both methods were similar. The results of our study indicate that amikacin levels should be monitored in neonates to avoid toxic concentrations of this drug. On the basis of this study a new neonatal dosage schedule is proposed.

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