List of bibliographic references
Number of relevant bibliographic references: 16.
Ident. | Authors (with country if any) | Title |
---|
000242 (2000) |
P. Huppke [Allemagne] ; H J Christen ; B. Sattler ; F. Hanefeld | Two brothers with Hennekam syndrome and cerebral abnormalities. |
000414 (2000) |
S. Jacquemont [France] ; S. Barbarot ; M. Bocéno ; J F Stalder ; A. David | Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report. |
000A34 (2002) |
F. Forzano [Italie] ; F. Faravelli ; A. Loy ; M. Di Rocco | Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. |
000B96 (2003) |
Brad Angle [États-Unis] ; Frank Yen ; Joseph H. Hersh ; Gordon Gowans | Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome. |
001E56 (2005) |
Pradeep C. Vasudevan [Royaume-Uni] ; Sixto Garcia-Minaur ; Maria Pilar Botella ; Antonio Perez-Aytes ; Nora L. Shannon ; Oliver W J. Quarrell | Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. |
002E65 (1991) |
G. Neri ; M. Zollino ; J F Reynolds | The Noonan-CFC controversy. |
003041 (1991) |
O. Gabrielli [Italie] ; C. Catassi ; A. Carlucci ; G V Coppa ; P. Giorgi | Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. |
003A96 (2010) |
Antonella Fabretto [Italie] ; Alison Shardlow ; Flavio Faletra ; Loredana Lepore ; Uros Hladnik ; Paolo Gasparini | A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. |
003B33 (2010) |
Benjamin D. Solomon [États-Unis] ; Eileen Lange [États-Unis] ; Jay Shubrook [États-Unis] ; F. John Service [États-Unis] ; Gail Herman [États-Unis] ; Rajaram J. Karne [États-Unis] ; Phillip Gorden [États-Unis] ; Maximilian Muenke [États-Unis] ; Constantine A. Stratakis [États-Unis] | Deletion of 8q24 in an Adult with Mild Dysmorphic Features, Developmental Delay, and Ketotic Hypoglycemia |
004237 (2010) |
G. Morcaldi [Italie] ; F. Boccardo ; C. Campisi ; T. Bellini ; D. Massocco ; E. Bonioli | Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association. |
007712 (1989) |
R C Hennekam [Pays-Bas] ; R A Geerdink ; B C Hamel ; F A Hennekam ; P. Kraus ; J A Rammeloo ; A A Tillemans | Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. |
009D94 (1971) |
C J Baker ; A J Rudolph | Congenital ring constrictions and intrauterine amputations. |
00B157 (1995) |
V. Cormier-Daire [France] ; S. Lyonnet ; A. Lehnert ; D. Martin ; R. Salomon ; N. Patey ; M. Broyer ; C. Ricour ; A. Munnich | Craniosynostosis and kidney malformation in a case of Hennekam syndrome. |
00B529 (1993) |
M. Chery ; C. Philippe ; A M Worms ; S. Gilgenkrantz | The Noonan syndrome. The Nancy experience revisited. |
00B604 (1993) |
M. Yasunaga [Japon] ; C. Yamanaka ; M. Mayumi ; T. Momoi ; H. Mikawa | Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. |
00B935 (1996) |
K. Mishima [Japon] ; T. Sugahara ; Y. Mori ; M. Sakuda | Three cases of oblique facial cleft. |
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