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Publikováno v:
Genetic counseling (Geneva, Switzerland). 15(3)
This manuscript reports a fetus of 24 weeks gestation, detected on echography to have congenital anomalies: intra-uterine growth retardation, facial dysmorphism, ventricular septal defect with aortic displacement and 8-mm nuchal skinfold thickness. K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9eaa78cd091a3f119ddf599acb4008b
https://pubmed.ncbi.nlm.nih.gov/15517823
https://pubmed.ncbi.nlm.nih.gov/15517823
Autor:
M A, Belaud-Rotureau, P, Dubus, M, Parrens, M, Turmo, G, Lacroute, L, Taine, G, Marit, J, Reiffers, P, Vago, A, De Mascarel, J P, Merlio
Publikováno v:
Morphologie : bulletin de l'Association des anatomistes. 85(270)
Cytogenetic analyses have revealed that mantle cell lymphomas (MCL) are closely associated with the t(11;14)(q13;q32). This translocation juxtaposes the immunoglobulin heavy chain gene (IGH) sequences with the BCL-1 locus, leading to up-regulation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::08c9c67d011ac20dbba1cd56ea89d073
https://pubmed.ncbi.nlm.nih.gov/11723817
https://pubmed.ncbi.nlm.nih.gov/11723817
Autor:
T, Mansir, D, Lacombe, T, Lamireau, L, Taine, J F, Chateil, B, Le Bail, J L, Demarquez, M, Fayon
Publikováno v:
Genetic counseling (Geneva, Switzerland). 10(1)
We report the case of a child with 22q11 microdeletion who presented with abdominal lymphatic dysplasia resulting in exsudative enteropathy. This primitive and localized lymphatic malformation is consistent with the vascular theory in the velocardiof
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::09b2125f4b790de714f6c6d4bd2b354a
https://pubmed.ncbi.nlm.nih.gov/10191431
https://pubmed.ncbi.nlm.nih.gov/10191431
Publikováno v:
Revue de laryngologie - otologie - rhinologie. 118(4)
The DiGeorge syndrome presents clinically as a combination of a congenital cardiopathy with immune deficiency and predisposition to infections, signs of hypoparathyroidis with severe hypocalcaemia in the neonatal period, and facial dysmorphism. New t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ad9d6f97118dcc1aaaeebdc38f6c0ce2
https://pubmed.ncbi.nlm.nih.gov/9637100
https://pubmed.ncbi.nlm.nih.gov/9637100
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 24(2)
Determine the pathogenesis of fetal nuchal oedema and cystic hygromas of the neck and establish prenatal prognosis factors.Retrospective study of 49 cases including 35 early diagnoses (10 to 14 weeks gestation) and 14 late diagnosis (after 15 weeks).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71af6a06499c05584a2e5693bcb8495b
https://pubmed.ncbi.nlm.nih.gov/7782588
https://pubmed.ncbi.nlm.nih.gov/7782588
Publikováno v:
Prenatal diagnosis. 14(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e2506bd9a9cba9b68c1e1bc17b605307
https://pubmed.ncbi.nlm.nih.gov/7845902
https://pubmed.ncbi.nlm.nih.gov/7845902
Publikováno v:
Fetal diagnosis and therapy. 9(4)
During a 4-year period, 29 fetal nuchal edemas were observed, associated with other ultrasound abnormalities in 7 cases (24%). Fetal karyotypes were abnormal in 10 cases: 6 trisomy 21; 3 trisomy 18, and 1 Turner's syndrome. Isolated fetal nuchal edem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81f2408d9f8f19191a1d2bc74641200e
https://pubmed.ncbi.nlm.nih.gov/7945905
https://pubmed.ncbi.nlm.nih.gov/7945905
Publikováno v:
Cancer genetics and cytogenetics. 67(1)
A chromosomal study of 42 colonic adenomatous polyps was performed using a technique of direct chromosome analysis derived from the prenatal procedure for diagnosing chromosomal alterations from chorionic villi sampling. Abnormal karyotypes were foun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::85ed669208709b741a8c0691bc51a810
https://pubmed.ncbi.nlm.nih.gov/8504403
https://pubmed.ncbi.nlm.nih.gov/8504403
Publikováno v:
The Lancet. 351:1434-1435
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33d23a93f94a9cd9b9cf89ee61740117
https://doi.org/10.1016/s0140-6736(05)79481-2
https://doi.org/10.1016/s0140-6736(05)79481-2