Zobrazeno 1 - 10
of 17
pro vyhledávání: '"M. O. Peter"'
Autor:
Beatrice Dott, M. O. Peter, Yves Alembik, Claude Stoll, A. Pennerath, B. De Geeter, M. J. Meyer
Publikováno v:
Prenatal Diagnosis. 13:453-461
Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b8ce1a9f4ac78afedf681241596652
https://doi.org/10.1002/pd.1970130606
https://doi.org/10.1002/pd.1970130606
Publikováno v:
Clinical dysmorphology. 8(4)
Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family die
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88951a77660a05c8e6bbcdc6c43b0c79
https://pubmed.ncbi.nlm.nih.gov/10532172
https://pubmed.ncbi.nlm.nih.gov/10532172
Publikováno v:
Prenatal diagnosis. 18(8)
Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies may be detected on prenatal ultrasound is beyond doubt. What is possible is not, however, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1b6f11539d161ad9e1a4bfea21246dc3
https://pubmed.ncbi.nlm.nih.gov/9742567
https://pubmed.ncbi.nlm.nih.gov/9742567
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 4(9)
Nephrotic syndrome is known to be associated with thrombosis but rarely of cerebral vessels.A 3-year old child with steroid-dependent nephrotic syndrome was hospitalized for drowziness followed by a left hemiparesis. The CTscan showed a superior sagi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9264b775318b45fb147e97ae86b0953a
https://pubmed.ncbi.nlm.nih.gov/9345566
https://pubmed.ncbi.nlm.nih.gov/9345566
Akademický článek
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Autor:
Damian Labuda, R. M'rad, M. O. Peter, C. Julier, Anne Vincent, M. C. Hors-Cayla, S. Heuertz, J. F. Stalder, J. Boyer, L. Holvoet-Vermaut, I. Oberlé, C. Moraine, Niklas Dahl, J. Maleville, L. Simard, Abdelaziz Sefiani
Publikováno v:
Human Genetics. 86
Linkage data for familial incontinentia pigmenti (IP2) and nine X chromosomal markers are reported. Previously found linkage between IP2 and the DXS52 locus is confirmed with the maximum lod score of 6.19 at a recombination fraction of 0.03. Linkage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e4e7bc25e225319a47b5a4d485d25a
https://doi.org/10.1007/bf00202414
https://doi.org/10.1007/bf00202414
Publikováno v:
Clinical Dysmorphology. 8:247
Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family die
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c485e7e18544374ea797479d73ca67c6
https://doi.org/10.1097/00019605-199910000-00003
https://doi.org/10.1097/00019605-199910000-00003
Autor:
A. Sefiani, D. Sinnett, L. Abel, S. Szpiro-Tapia, S. Heuertz, I. Craig, N. Fraser, T. A. Kruse, M. Frydman, M. O. Peter, J. L. Schmutz, S. Gilgenkrantz, G. Mitchell, J. Frézal, S. Melançon, L. Lavergne, D. Labuda, M. C. Hors-Cayla
Publikováno v:
Human genetics. 80(3)
Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chromosome, using hamster X human somatic cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ddeaf44acc380f14c890811b9b3566b
https://pubmed.ncbi.nlm.nih.gov/3192215
https://pubmed.ncbi.nlm.nih.gov/3192215
Autor:
P, Maroteaux, L, Cohen-Solal, J, Bonaventure, M O, Peter, C, Francannet, P, Guibaud, C, Moraine
Publikováno v:
Archives francaises de pediatrie. 45(7)
The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1c52ad25a6578bcc21a73140f69eb422
https://pubmed.ncbi.nlm.nih.gov/3060039
https://pubmed.ncbi.nlm.nih.gov/3060039
Publikováno v:
Pediatrie. 39(2)
The authors report two familial cases of algerian children with a hyperornithinaemia and a gyrate atrophy. Blood ornithine was 10 to 20 above the normal, lysine and glutamic acid were slightly decreased. Urinary ornithine levels were very high. The e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aea1dafd93a1009c28b9fb8a63ecf486
https://pubmed.ncbi.nlm.nih.gov/6473006
https://pubmed.ncbi.nlm.nih.gov/6473006