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1Latest Papers from Table of Contents or Articles in PressS. Jacquemont ; A. Reymond ; F. Zufferey ; L. Harewood ; R. G. Walters ; Z. Kutalik ; D. Martinet ; Y. Shen ; A. Valsesia ; N. D. Beckmann ; G. Thorleifsson ; M. Belfiore ; S. Bouquillon ; D. Campion ; N. de Leeuw ; B. B. de Vries ; T. Esko ; B. A. Fernandez ; F. Fernandez-Aranda ; J. M. Fernandez-Real ; M. Gratacos ; A. Guilmatre ; J. Hoyer ; M. R. Jarvelin ; R. F. Kooy ; A. Kurg ; C. Le Caignec ; K. Mannik ; O. S. Platt ; D. Sanlaville ; M. M. Van Haelst ; S. Villatoro Gomez ; F. Walha ; B. L. Wu ; Y. Yu ; A. Aboura ; M. C. Addor ; Y. Alembik ; S. E. Antonarakis ; B. Arveiler ; M. Barth ; N. Bednarek ; F. Bena ; S. Bergmann ; M. Beri ; L. Bernardini ; B. Blaumeiser ; D. Bonneau ; A. Bottani ; O. Boute ; H. G. Brunner ; D. Cailley ; P. Callier ; J. Chiesa ; J. Chrast ; L. Coin ; C. Coutton ; J. M. Cuisset ; J. C. Cuvellier ; A. David ; B. de Freminville ; B. Delobel ; M. A. Delrue ; B. Demeer ; D. Descamps ; G. Didelot ; K. Dieterich ; V. Disciglio ; M. Doco-Fenzy ; S. Drunat ; B. Duban-Bedu ; C. Dubourg ; J. S. El-Sayed Moustafa ; P. Elliott ; B. H. Faas ; L. Faivre ; A. Faudet ; F. Fellmann ; A. Ferrarini ; R. Fisher ; E. Flori ; L. Forer ; D. Gaillard ; M. Gerard ; C. Gieger ; S. Gimelli ; G. Gimelli ; H. J. Grabe ; A. Guichet ; O. Guillin ; A. L. Hartikainen ; D. Heron ; L. Hippolyte ; M. Holder ; G. Homuth ; B. Isidor ; S. Jaillard ; Z. Jaros ; S. Jimenez-Murcia ; G. J. Helas ; P. Jonveaux ; S. Kaksonen ; B. Keren ; A. Kloss-Brandstatter ; N. V. Knoers ; D. A. Koolen ; P. M. Kroisel ; F. Kronenberg ; A. Labalme ; E. Landais ; E. Lapi ; V. Layet ; S. Legallic ; B. Leheup ; B. Leube ; S. Lewis ; J. Lucas ; K. D. MacDermot ; P. Magnusson ; C. Marshall ; M. Mathieu-Dramard ; M. I. McCarthy ; T. Meitinger ; M. A. Mencarelli ; G. Merla ; A. Moerman ; V. Mooser ; F. Morice-Picard ; M. Mucciolo ; M. Nauck ; N. C. Ndiaye ; A. Nordgren ; L. Pasquier ; F. Petit ; R. Pfundt ; G. Plessis ; E. Rajcan-Separovic ; G. P. Ramelli ; A. Rauch ; R. Ravazzolo ; A. Reis ; A. Renieri ; C. Richart ; J. S. Ried ; C. Rieubland ; W. Roberts ; K. M. Roetzer ; C. Rooryck ; M. Rossi ; E. Saemundsen ; V. Satre ; C. Schurmann ; E. Sigurdsson ; D. J. Stavropoulos ; H. Stefansson ; C. Tengstrom ; U. Thorsteinsdottir ; F. J. Tinahones ; R. Touraine ; L. Vallee ; E. van Binsbergen ; N. Van der Aa ; C. Vincent-Delorme ; S. Visvikis-Siest ; P. Vollenweider ; H. Volzke ; A. T. Vulto-van Silfhout ; G. Waeber ; C. Wallgren-Pettersson ; R. M. Witwicki ; S. Zwolinksi ; J. Andrieux ; X. Estivill ; J. F. Gusella ; O. Gustafsson ; A. Metspalu ; S. W. Scherer ; K. Stefansson ; A. I. Blakemore ; J. S. Beckmann ; P. Froguel
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-09-02Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adolescent ; Adult ; Aged ; Aging ; Body Height/genetics ; *Body Mass Index ; Case-Control Studies ; Child ; Child, Preschool ; Chromosomes, Human, Pair 16/*genetics ; Cohort Studies ; Comparative Genomic Hybridization ; Developmental Disabilities/genetics ; Energy Metabolism/genetics ; Europe ; Female ; Gene Dosage/*genetics ; Gene Duplication/genetics ; Gene Expression Profiling ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Head/anatomy & histology ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Disorders/genetics ; Middle Aged ; Mutation/genetics ; North America ; Obesity/*genetics ; *Phenotype ; RNA, Messenger/analysis/genetics ; Sequence Deletion/genetics ; Thinness/*genetics ; Transcription, Genetic ; Young AdultPublished by: -
2Latest Papers from Table of Contents or Articles in PressStaff View
Publication Date: 2018-05-26Publisher: BMJ Publishing GroupPrint ISSN: 0022-2593Electronic ISSN: 1468-6244Topics: MedicineKeywords: Editor's choicePublished by: -
3Latest Papers from Table of Contents or Articles in PressStaff View
Publication Date: 2018-02-23Publisher: BMJ Publishing GroupPrint ISSN: 0022-2593Electronic ISSN: 1468-6244Topics: MedicinePublished by: -
4Articles: DFG German National LicensesVazquez, M.-D. ; Bouchet, P. ; Mallet, J.-L. ; Foliguet, B. ; Gérard, H. ; LeHeup, B.
Oxford, UK : Blackwell Publishing Ltd
Published 1998Staff ViewISSN: 1439-0264Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: The present work reports on the three-dimensional reconstruction of the segmented mesonephros during the embryonic development of the mouse. With a light microscope and an automatic reconstruction of surfaces, aspects of the mesonephros are described. These surfaces are obtained by using digitized contour lines. A new interpolation method called DSI (Discrete Smooth Interpolation) enables correction of the distortion induced by microtomy in paraffin sections. After a tri-angulation step, this method uses a smoothing algorithm, which implies a spatial redistribution of the vertices of the triangles to correct the rotational and translational misalignment. The use of this 3D program improves the understanding of the development patterns and helps us to appreciate changes in the rebuilt mesonephros. By 10.5 embryonic days, tubules emerge from the Wolffian body and begin their formation, then between 11.5 and 13.5 embryonic days, tortuous mesonephric tubules bound to the Wolffian duct form small curls, which grow and finally unwind. At the same time, mesonephric tubules unbound to the Wolffian duct appear, and on 13.5 embryonic days, the Müllerian duct is visible. After 14.5 embryonic days, the segmented mesonephros keeps its general aspect but decreases in size. At this time, each gonad is provided with both Wolffian and Müllerian ducts. Later, the Wolffian duct differentiates into the definitive male duct system, whilst the Müllerian duct regresses. Conversely, the paramesonephric duct differentiates into the definitive female duct system, whilst the mesonephric duct in turn degenerates. By this time degeneration has begun in the cranial portion of the mesonephros and this process progresses caudally. The spatial organization of the mesonephric tubules and the precise organization of all connections between these elements and the ducts may be well defined. Such approach can allow for a high definition of the normal pattern of mesonephros differentiation.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesFelden, F. ; Leheup, B. ; Fremont, S. ; Bouguerne, R. ; Egloff, M. ; Nicolas, J.P. ; Grignon, G. ; Gueant, J.L.
Amsterdam : ElsevierStaff ViewISSN: 0960-0760Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: BiologyChemistry and PharmacologyType of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesStaff View
ISSN: 1432-119XSource: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The distribution of type IV collagen and laminin was studied by immunocytochemistry during rat gonadal morphogenesis and postnatal development of the testis and epididymis. Immunostaining appeared as early as the 12th day of gestation along the basement membranes of the mesonephric-gonadal complex. The connection between some mesonephric tubules and coelomic epithelium was seen between the 12th and 13th day of gestation. Discontinuous immunostained basement membranes delineated the differentiating sexual cords in 13-day-old fetuses; this process probably began in the inner part of the gonadal ridge. The seminiferous cords surrounded by a continuous immunoreactive basement membrane are separated from the coelomic epithelium by the differentiating tunica albuginea in 14-day-old fetuses. During the postnatal maturation of epididymis and testis, the differentiation of peritubular cells is accompanied by a progressive organisation of the extracellular matrix into a continuous basement membrane. This change is associated with a gradual condensation of peritubular cells inducing an increase of immunostaining. In adult animals, the tubular wall of epididymis is thicker than the lamina propria of seminiferous tubules. Both type IV collagen and laminin immunostaining paralleled during ontogenesis at the light-microscope level.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesStaff View
ISSN: 1432-119XSource: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The synthesis of one of the main glycoproteins of the basement membrane, the laminin, was demonstrated by ultrastructural immunolocalization during rat foetal (16th day to 20th day of gestation) and postnatal development of the testis. The lamina densa, part of seminiferous tubular basement membrane, is labeled uniformly at all studied stages. The lamina lucida is not well defined before the postnatal stages, at which times discrete immunostaining extends from the lamina densa to the adjacent seminiferous epithelial cells (spermatogonia and Sertoli cells). The extracellular matrix around the peritubular cells is not labeled before birth. Intracellular immunostaining was detected as early as the 16th day of gestation in both Sertoli cells and cells around the seminiferous tubules which will transform later into peritubular cells. It was located in rough endoplasmic reticulum (RER) cisternae and secretory vesicles. After 18–20 days of postnatal life, the immunostaining faints progressively. Some positive material is seen in the RER of the gonocytes at all studied stages. Sertoli cells and peritubular cells are the main producing cells of laminin after the 16th of gestation. The laminin secreted by gonocytes may play an important role in adhesion of gonocytes to the lamina densa and adjacent Sertoli cells before their transition from basal compartment to adluminal compartment.Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesStaff View
ISSN: 1432-119XSource: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The synthesis of one of the main glycoproteins of the basement membrane, the laminin, was demonstrated by ultrastructural immunolocalization during rat foetal (16th day to 20th day of gestation) and postnatal development of the testis. The lamina densa, part of seminiferous tubular basement membrane, is labeled uniformly at all studied stages. The lamina lucida is not well defined before the postnatal stages, at which times discrete immunostaining extends from the lamina densa to the adjacent seminiferous epithelial cells (spermatogonia and Sertoli cells). The extracellular matrix around the peritubular cells is not labeled before birth. Intracellular immunostaining was detected as early as the 16th day of gestation in both Sertoli cells and cells around the seminiferous tubules which will transform later into peritubular cells. It was located in rough endoplasmic reticulum (RER) cisternae and secretory vesicles. After 18–20 days of postnatal life, the immunostaining faints progressively. Some positive material is seen in the RER of the gonocytes at all studied stages. Sertoli cells and peritubular cells are the main producing cells of laminin after the 16th of gestation. The laminin secreted by gonocytes may play an important role in adhesion of gonocytes to the lamina densa and adjacent Sertoli cells before their transition from basal compartment to adluminal compartment.Type of Medium: Electronic ResourceURL: -
9Articles: DFG German National LicensesBoerkoel, C. F. ; O'Neill, S. ; André, J. L. ; Benke, P. J. ; Bogdanovíć, R. ; Bulla, M. ; Burguet, A. ; Cockfield, S. ; Cordeiro, I. ; Ehrich, J. H. H. ; Fründ, S. ; Geary, D. F. ; Ieshima, A. ; Illies, F. ; Joseph, M. W. ; Kaitila, I. ; Lama, G. ; Leheup, B. ; Ludman, M. D. ; McLeod, D. R. ; Medeira, A. ; Milford, D. V. ; Örmälä, T. ; Rener-Primec, Z. ; Santava, A.
Springer
Published 2000Staff ViewISSN: 1432-1076Keywords: Key words Osteochondrodysplasia ; Cerebral ischaemia ; Immunologic deficiency syndrome ; Kidney failure ; Hypothyroidism ; Focal glomerulosclerosisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.Type of Medium: Electronic ResourceURL: -
10Articles: DFG German National LicensesStaff View
ISSN: 1432-1076Keywords: Key words Antley-Bixler syndrome ; Imperforate anus ; Kidney ; malformation ; UrogenitalSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.Type of Medium: Electronic ResourceURL: -
11Articles: DFG German National LicensesStaff View
ISSN: 1432-1076Keywords: Antley-Bixler syndrome Imperforate anus ; Kidney malformation ; Urogenital malformationSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.Type of Medium: Electronic ResourceURL: