| Ident. | Authors (with country if any) | Title |
|---|
| 001501 (2016) |
Fatma Bastaki [Émirats arabes unis] ; Madiha Mohamed [Émirats arabes unis] ; Pratibha Nair [Émirats arabes unis] ; Fatima Saif [Émirats arabes unis] ; Nafisa Tawfiq [Émirats arabes unis] ; Mahmoud Taleb Al-Ali [Émirats arabes unis] ; Oliver Brandau [Allemagne] ; Abdul Rezzak Hamzeh [Émirats arabes unis] | A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. |
| 002A33 (2014) |
Mariëlle Alders [Pays-Bas] ; Lihadh Al-Gazali ; Isabelle Cordeiro ; Bruno Dallapiccola ; Livia Garavelli ; Beyhan Tuysuz ; Faranak Salehi ; Martin A. Haagmans ; Olaf R. Mook ; Charles B. Majoie ; Marcel M. Mannens ; Raoul C. Hennekam | Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. |
| 002B49 (2014) |
Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva Morava | Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. |
| 003C43 (2013) |
G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour | A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family |
| 004094 (2012) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Antonella Mendola [Belgique] ; Pradeep Vasudevan [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Andreas Van Impel [Pays-Bas] ; Anthony T. Moore [Royaume-Uni] ; Bart L. Loeys [Belgique] ; Arash Ghalamkarpour [Belgique] ; Alexandros Onoufriadis [Royaume-Uni] ; Ines Martinez-Corral ; Sophie Devery [Royaume-Uni] ; Jules G. Leroy [Belgique] ; Lut Van Laer [Belgique] ; Amihood Singer [Israël] ; Martin G. Bialer [États-Unis] ; Meriel Mcentagart [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Richard C. Trembath [Royaume-Uni] ; Stefan Schulte-Merker [Pays-Bas] ; Taija Makinen ; Miikka Vikkula [Belgique] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] | Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy |
| 005492 (2010) |
Loïc Vaillant [France] ; Valérie Tauveron | [Primary lymphedema of limbs]. |
| 005811 (2010) |
Byung Joo Lee [Corée du Sud] ; Jeong Hun Kim ; Young Suk Yu | Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. |
| 005A67 (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. |
| 005B38 (2010) |
Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra [Thaïlande] ; Karn Wejathikul [Thaïlande] ; Wirawit Piyamongkol [Thaïlande] | c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient |
| 005F16 (2009) |
S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. Dedes | [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome]. |
| 006148 (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. |
| 006599 (2009) |
Smadar Eventov-Friedman [Israël] ; Amihood Singer [Israël] ; Eric S. Shinwell [Israël] | Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature |
| 007084 (2007) |
Chih-Ping Chen [Taïwan] | Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. |
| 007F44 (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. |
| 008542 (2005) |
Eugenio Bonioli [Italie] ; Raoul C. Hennekam [Pays-Bas] ; Gianantonio Spena [Italie] ; Guido Morcaldi [Italie] ; Antonio Di Stefano [Italie] ; Giovanni Serra [Italie] ; Carlo Bellini [Italie] | Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia |
| 009054 (2003) |
Brad Angle [États-Unis] ; Frank Yen [États-Unis] ; Joseph H. Hersh [États-Unis] ; Gordon Gowans [États-Unis] | Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome |
| 009123 (2003) |
Carlo Bellini [Italie] ; Massimo Mazzella [Italie] ; Cesare Arioni [Italie] ; Corradino Campisi [Italie] ; Gioconda Taddei [Italie] ; Paolo Tomà [Italie] ; Francesco Boccardo [Italie] ; Raoul C. Hennekam [Pays-Bas] ; Giovanni Serra [Italie] | Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia |
| 009396 (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. |
| 009673 (2002) |
Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review |
| 009721 (2002) |
M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre [France] ; R. Couderc ; M-P Vazquez [France] | FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate |
| 009791 (2002) |
G. Brice [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; R. Bell [Royaume-Uni] ; J R O. Collin [Royaume-Uni] ; A H Child [Royaume-Uni] ; A F Brady [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; K G Burnand [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; V A Murday [Royaume-Uni] | Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 |
