Serveur d'exploration sur le lymphœdème - Curation (Ncbi)

Index « Keywords » - entrée « Face (abnormalities) »
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Face < Face (abnormalities) < Face (blood supply)  Facettes :

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. HanefeldTwo brothers with Hennekam syndrome and cerebral abnormalities.
000414 (2000) S. Jacquemont [France] ; S. Barbarot ; M. Bocéno ; J F Stalder ; A. DavidFamilial 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 RoccoSevere 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 GowansPatient 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. QuarrellMicrocephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
002E65 (1991) G. Neri ; M. Zollino ; J F ReynoldsThe Noonan-CFC controversy.
003041 (1991) O. Gabrielli [Italie] ; C. Catassi ; A. Carlucci ; G V Coppa ; P. GiorgiIntestinal 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 GaspariniA 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. BonioliCongenital 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 TillemansAutosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
009D94 (1971) C J Baker ; A J RudolphCongenital 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. MunnichCraniosynostosis and kidney malformation in a case of Hennekam syndrome.
00B529 (1993) M. Chery ; C. Philippe ; A M Worms ; S. GilgenkrantzThe Noonan syndrome. The Nancy experience revisited.
00B604 (1993) M. Yasunaga [Japon] ; C. Yamanaka ; M. Mayumi ; T. Momoi ; H. MikawaProtein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
00B935 (1996) K. Mishima [Japon] ; T. Sugahara ; Y. Mori ; M. SakudaThree cases of oblique facial cleft.

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