Zobrazeno 1 - 10
of 172
pro vyhledávání: '"C. Nessmann"'
Publikováno v:
Clinical Genetics. 42:281-287
Wolf-Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth r
Autor:
Marc Dommergues, Y. Nordmann, Marie-Claire Gubler, C. Nessmann, F. Muller, Farida Daïkha-Dahmane, G. Terrasse, Yves Dumez, E. Gauthier, Narcy F
Publikováno v:
Pediatric and Developmental Pathology. 4:180-184
Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made
Publikováno v:
American Journal of Medical Genetics. 80:514-517
We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examinat
Autor:
C. Nessmann
Publikováno v:
Revue Française des Laboratoires. 1998:25-28
Resume La fœtopathologie est une specialite nouvelle, axee sur la pathologie du developpement. Le protocole d'examen, les structures adoptees des laboratoires, la formation pluridisciplinaire des medecins fœtopathologistes, ainsi que les aspects le
Publikováno v:
Immuno-analyse & Biologie Spécialisée. 12:165-168
Resume En moins de 30 ans, la medecine fœtale s'est dotee d'investigations diagnostiques considerables. Le caryotype fœtal, devenu possible en routine dans les annees 70 par amniocentese, a particulierement beneficie des progres de la technologie.
Autor:
Ariane Berdal, I Noble, Petros Papagerakis, J L Davideau, Isabelle Bailleul-Forestier, M Peuchmaur, C Nessmann
Publikováno v:
Scopus-Elsevier
The role of vitamin D in ameloblasts and odontoblasts has been studied experimentally in rodents. Dental dysplasias have also been reported in clinical studies of children with rickets. Vitamin D acts via a nuclear receptor which binds the major meta
Publikováno v:
Pediatric Radiology. 25:551-555
In order to establish a fetal bone age score, the post-mortem skeletal radiographs of 85 selected normal fetuses aged from 15 to 41 weeks of gestation (WG) were analysed. Twenty-eight skeletal areas were selected for which quantitative and/or qualita
Autor:
Takeshi Takashima, Gérard Tachdjian, Luc Druart, B. Arabin, Hitoo Nakano, Ross Welch, Bernard J. Weill, Hans K. Weitzel, Takashi Koyanagi, Sylvie Laumond-Barny, Michèle Uzan, C. Nessmann, Yvette Sultan, Valère Cacheux, Catherine Tchobroutsky, E. Jimenez, Jean-Louis Benifla, B. L. Hsi, Nicholas M. Fisk, Michael Vogel, Charles H. Rodeck, Junji Nishimura, J. F. Bruch, C. Milesi-Fluet, Daniel Ronderos-Dumit, Umberto Nicolini, Serge Uzan, Janet I. Vaughan, Emile Papiernik, Hirotaka Maeda
Publikováno v:
Fetal Diagnosis and Therapy. 7:203-243
Publikováno v:
Neonatology. 57:261-278
A series of 15 monochorionic twins with a great variety of cerebral lesions is reported. Seven cases illustrate the classical situation: the recipient twin was affected and his co-twin, the donor was macerated. In 5 cases, the lesions were described
Publikováno v:
Prenatal Diagnosis. 14:1097-1099