List of bibliographic references indexed by Phenotype
Number of relevant bibliographic references: 36.
[0-20] [
0 - 20][
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20-35][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 001528 (2013) |
| ORAL PRESENTATIONS |
| 001648 (2013) |
Flore Zufferey [France] ; Smaïl Hadj-Rabia [France] ; Annachiara De Sandre-Giovannoli [France] ; Jean-Louis Dufier [France] ; Bruno Leheup [France] ; Cyril Schweitze [France] ; Christine Bodemer [France] ; Valérie Cormier-Daire [France] ; Martine Le Merrer [France] | Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type |
| 001E03 (2012) |
| Poster Presentations |
| 001E09 (2012) |
Robert Chiesa ; Kimberly Gilmour ; Waseem Qasim ; Stuart Adams ; Austen J. J. Worth ; Hong Zhan ; Claudia A. Montiel-Equihua ; Sophie Derniame ; Catherine Cale ; Kanchan Rao ; Prashant Hiwarkar ; Rachel Hough ; Aurore Saudemont [Royaume-Uni] ; Cristián S. Fahrenkrog [Royaume-Uni, Chili] ; Nick Goulden [Royaume-Uni] ; Persis J. Amrolia ; Paul Veys | Omission of in vivo T‐cell depletion promotes rapid expansion of naïve CD4+ cord blood lymphocytes and restores adaptive immunity within 2 months after unrelated cord blood transplant |
| 001E32 (2012) |
Brandon Itzkovitz [Canada] ; Sarn Jiralerspong [Canada] ; Graeme Nimmo [Canada] ; Melissa Loscalzo [États-Unis] ; Dafne D. G. Horovitz [Brésil] ; Ann Snowden [États-Unis] ; Ann Moser [États-Unis] ; Steve Steinberg [États-Unis] ; Nancy Braverman [Canada] | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 |
| 001E38 (2012) |
Céline Bonnet [France] ; Alice Masurel-Paulet [France] ; Asma Ali Khan [France] ; Mylène Béri-Dexheimer [France] ; Patrick Callier [France] ; Francine Mugneret [France] ; Christophe Philippe [France] ; Christel Thauvin-Robinet [France] ; Laurence Faivre [France] ; Philippe Jonveaux [France] | Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability |
| 001E44 (2012) |
Kosuke Izumi [États-Unis] ; Laura K. Conlin [États-Unis] ; Donna Berrodin [États-Unis] ; Christopher Fincher [États-Unis] ; Alisha Wilkens [États-Unis] ; Chad Haldeman-Englert [États-Unis] ; Sulagna C. Saitta [États-Unis] ; Elaine H. Zackai [États-Unis] ; Nancy B. Spinner [États-Unis] ; Ian D. Krantz [États-Unis] | Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region |
| 003046 (2010) |
Alexander H. Hoon Jr. [États-Unis] ; Andreia Vasconcellos Faria [États-Unis] | Pathogenesis, neuroimaging and management in children with cerebral palsy born preterm |
| 003124 (2010) |
| Abstracts |
| 004295 (2008) |
Sophie Visvikis-Siest [France] ; Gérard Siest [France] | The STANISLAS Cohort: a 10-year follow-up of supposed healthy families. Gene-environment interactions, reference values and evaluation of biomarkers in prevention of cardiovascular diseases |
| 004337 (2008) |
| Paper Abstracts of the ISPD 14th International Conference |
| 004438 (2008) |
| 4th Biologie Prospective Santorini Conference, September 21–23, 2008, Santorini, Greece |
| 004B87 (2007) |
| Scientific |
| 004D16 (2007) |
| Administrative Operations |
| 004D34 (2007) |
| 5th ECRI Abstracts |
| 005392 (2006) |
| Scientific |
| 005536 (2006) |
| Administrative Operations |
| 006B61 (2004) |
Carrie J. Shawber [États-Unis] ; Jan Kitajewski [États-Unis] | Notch function in the vasculature: insights from zebrafish, mouse and man |
| 006B63 (2004) |
Mitsuhiro Kato [États-Unis, Japon] ; Soma Das [États-Unis] ; Kristin Petras [États-Unis] ; Kunio Kitamura [Japon] ; Ken-Ichirou Morohashi [Japon] ; Diane N. Abuelo [États-Unis] ; Mason Barr [États-Unis] ; Dominique Bonneau [France] ; Angela F. Brady [Royaume-Uni] ; Nancy J. Carpenter [États-Unis] ; Karen L. Cipero [États-Unis] ; Francesco Frisone [Italie] ; Takayuki Fukuda [Japon] ; Renzo Guerrini [Italie] ; Eri Iida [Japon] ; Masayuki Itoh [Japon] ; Amy Feldman Lewanda [États-Unis] ; Yukiko Nanba [Japon] ; Akira Oka [Japon] ; Virginia K. Proud [États-Unis] ; Pascale Saugier-Veber [France] ; Susan L. Schelley [États-Unis] ; Angelo Selicorni [Italie] ; Rachel Shaner [États-Unis] ; Margherita Silengo [Italie] ; Fiona Stewart [Royaume-Uni] ; Noriyuki Sugiyama [Japon] ; Jun Toyama [Japon] ; Annick Toutain [France] ; Ana Lía Vargas [Argentine] ; Masako Yanazawa [Japon] ; Elaine H. Zackai [États-Unis] ; William B. Dobyns [États-Unis] | Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation |
| 006B81 (2004) |
| International Society of Paediatric Oncology, SIOP XXXVI Congress Meeting: Abstracts |
| 009318 (2001) |
| POSTERS |
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