List of bibliographic references
Number of relevant bibliographic references: 49.
[0-20] [
0 - 20][
0 - 49][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 000081 (1999) |
D. Mowat [Australie] ; A. Jauch ; L. Robson ; A. Smith | Duplication within chromosome 5q characterized by fluorescence in situ hybridization. |
| 000615 (2001) |
I. Casteels ; K. Devriendt ; A. Leys ; H. Van Cleynenbreuge. ; P. Demaerel ; F. De Tavernier ; J. Fryns | Autosomal dominant microcephaly—lymphoedema-chorioretinal dysplasia syndrome |
| 000833 (2001) |
M M Van Haelst [Pays-Bas] ; J. Hoogeboom ; R J Galjaard ; W J Kleijer ; N S Den Hollander ; R R De Krijger ; R C Hennekam ; M F Niermeijer | Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome. |
| 000936 (2002) |
Carlo Bellini [Italie] ; Cesare Arioni ; Massimo Mazzella ; Corradino Campisi ; Gioconda Taddei ; Francesco Boccardo ; Giovanni Serra | Lymphoscintigraphic evaluation of congenital lymphedema of the newborn. |
| 000980 (2002) |
Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine Bodemer | Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. |
| 000A31 (2002) |
G. Brice ; S. Mansour ; R. Bell ; J. Collin ; A. Child ; A. Brady ; M. Sarfarazi ; K. Burnand ; S. Jeffery ; Peter Mortimer (dermatologue) [Royaume-Uni] ; V. Murday | Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 |
| 000B29 (2002) |
Inge D C. Van Balkom ; Mariel Alders ; Judith Allanson ; Carlo Bellini ; Ulrich Frank ; Greetje De Jong ; Ingeborg Kolbe ; Didier Lacombe ; Stan Rockson ; Peter Rowe ; Frits Wijburg ; Raoul C M. Hennekam | Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. |
| 000B81 (2002) |
M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre ; R. Couderc ; M-P Vazquez | FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. |
| 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. |
| 000D73 (2003) |
Carlo Bellini [Italie] ; Massimo Mazzella ; Cesare Arioni ; Corradino Campisi ; Gioconda Taddei ; Paolo Tomà ; Francesco Boccardo ; Raoul C. Hennekam ; Giovanni Serra | Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. |
| 001766 (????) |
Alena Salim ; M. Pike ; R. Turner ; Peter Mortimer (dermatologue) | Lymphedema: an additional finding in the charge association. |
| 001C31 (2005) |
Eugenio Bonioli [Italie] ; Raoul C. Hennekam ; Gianantonio Spena ; Guido Morcaldi ; Antonio Di Stefano ; Giovanni Serra ; Carlo Bellini | Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia. |
| 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. |
| 002806 (2007) |
Chih-Ping Chen [Taïwan] | Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. |
| 002878 (1991) |
M. Urioste [Espagne] ; A. Arroyo ; M L Martínez-Frías | Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. |
| 002E65 (1991) |
G. Neri ; M. Zollino ; J F Reynolds | The Noonan-CFC controversy. |
| 002F01 (1991) |
G. Har-El ; M L Borderon ; M H Weiss | Choanal atresia and lymphedema. |
| 003118 (2009) |
Smadar Eventov-Friedman [Israël] ; Amihood Singer ; Eric S. Shinwell | Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature. |
| 003364 (2009) |
S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. Dedes | [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome]. |
| 003757 (2009) |
Marielle Alders [Pays-Bas] ; Benjamin M. Hogan ; Evisa Gjini ; Faranak Salehi ; Lihadh Al-Gazali ; Eric A. Hennekam ; Eva E. Holmberg ; Marcel M A M. Mannens ; Margot F. Mulder ; G Johan A. Offerhaus ; Trine E. Prescott ; Eelco J. Schroor ; Joke B G M. Verheij ; Merlijn Witte ; Petra J. Zwijnenburg ; Mikka Vikkula ; Stefan Schulte-Merker ; Raoul C. Hennekam | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. |
| 003936 (2010) |
Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra ; Karn Wejathikul ; Wirawit Piyamongkol | c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. |
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