Zobrazeno 1 - 10 of 67 pro vyhledávání: '"V. Desilets"'
1
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2
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome
Autor: Constantin Polychronakos, Inger Hansen, C. Bernard, K. Chong, Zubin Punthakee, L. Cartier, E. Cutz, C. Newman, John J. Mitchell, B. Lo, P. Riley, V. Desilets
Publikováno v: Diabetologia. 47:2160-2167
Neonatal diabetes is a rare disease with several identified molecular aetiologies. Despite associations with other malformations, neonatal diabetes with intestinal and biliary anomalies has not been described. The current study aims to describe a new
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab49a69dc94f782cacca407291f3853c
https://doi.org/10.1007/s00125-004-1576-3
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3
Pericardial Hemangioma Presenting as Thoracic Mass in utero
Autor: L. Morin, L. Jutras, Helene Flageole, Pramod Puligandla, Saundra Kay, V. Desilets, D. Shum-Tim, C. Bernard
Publikováno v: Fetal Diagnosis and Therapy. 19:178-181
Pericardial hemangiomas are rare lesions. We present the case of an infant who was referred to our fetal diagnosis and treatment group for the presence of a left thoracic mass, pleural effusion, and mediastinal shift on fetal ultrasound. The characte
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4773189a12b9f0c3bc8c3fbd51be8fa6
https://doi.org/10.1159/000075146
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4
Comparative genomic hybridization: A new approach to screening for intrauterine complete or mosaic aneuploidy
Autor: R. D. Wilson, I. J. Barrett, Valia S. Lestou, V. Desilets, Dagmar K. Kalousek, Sylvie Langlois, Brenda Lomax
Publikováno v: American Journal of Medical Genetics. 92:281-284
In the practice of clinical genetics chromosomal aneuploidy in both mosaic and nonmosaic forms has long been recognized as a cause of abnormal prenatal and postnatal development. Traditionally, cytogenetic analysis of cultured lymphocytes has been us
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a22c52d4ae7a223d9bccf164f7c92b1
https://doi.org/10.1002/(sici)1096-8628(20000605)92:4<281::aid-ajmg12>3.0.co
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5
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7
Large hepatic mesenchymal hamartoma leading to mid-trimester fetal demise
Autor: Y. Patenaude, L. Jutras, M.-F. Chen, L. Cartier, S. Khalife, V. Desilets, Jean-Martin Laberge
Publikováno v: Fetal diagnosis and therapy. 20(2)
This report describes a fetus with a large multiloculated cystic liver mass. Two small abdominal cysts were seen on ultrasound at 19 weeks of gestation but the patient was referred to us at 23 weeks, after the mass had grown to 8.0 × 5.6 × 7.0 cm,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54287c49991118fdc2f6ec190208d246
https://pubmed.ncbi.nlm.nih.gov/15692210
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8
Comparative genomic hybridization: a new approach to screening for intrauterine complete or mosaic aneuploidy
Autor: V S, Lestou, V, Desilets, B L, Lomax, I J, Barrett, R D, Wilson, S, Langlois, D K, Kalousek
Publikováno v: American journal of medical genetics. 92(4)
In the practice of clinical genetics chromosomal aneuploidy in both mosaic and nonmosaic forms has long been recognized as a cause of abnormal prenatal and postnatal development. Traditionally, cytogenetic analysis of cultured lymphocytes has been us
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae91e024d019a1154f16be9a8db414a2
https://pubmed.ncbi.nlm.nih.gov/10842297
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10
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