List of bibliographic references
Number of relevant bibliographic references: 49.
[20-40] [
0 - 20][
0 - 49][
40-48][
40-60]
| Ident. | Authors (with country if any) | Title |
|---|
| 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. |
| 003A95 (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. |
| 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. |
| 003F37 (2010) |
Loïc Vaillant [France] ; Valérie Tauveron | [Primary lymphedema of limbs]. |
| 004057 (????) |
Konrad Oexle [Allemagne] ; Maja Hempel ; Anna Jauch ; Thomas Meitinger ; Núria Rivera-Brugués ; Sabine Stengel-Rutkowski ; Tim Strom | 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. |
| 004A25 (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 |
| 005785 (2013) |
G. Brice ; P. Ostergaard ; S. Jeffery ; K. Gordon ; Peter Mortimer (dermatologue) [Royaume-Uni] ; S. Mansour | A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. |
| 006563 (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. |
| 006741 (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. |
| 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. |
| 007B90 (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. |
| 009580 (1987) |
J. Rosenthal [Israël] ; D. Abeliovich ; R. Carmi | Clinical variability of partial duplication 1q: a clinical report and literature review. |
| 009A85 (1987) |
A K Leung | Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence. |
| 009A86 (1987) |
P. Meinecke | A genetic association between microcephaly and lymphedema. |
| 009A87 (1987) |
S O Lewin ; H E Hughes | German syndrome in sibs. |
| 00A329 (1979) |
S J Funderburk ; R S Sparkes ; I. Klisak | Phenotypic variation in two patients with a ring chromosome 22. |
| 00A438 (1970) |
M. Robinow ; G F Johnson ; A D Verhagen | Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects. |
| 00AB65 (1983) |
P J Dahlberg ; W Z Borer ; K L Newcomer ; W R Yutuc | Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. |
| 00AC98 (1978) |
M. Miller ; A C Motulsky | Noonan syndrome in an adult family presenting with chronic lymphedema. |
| 00AD03 (????) |
H R Mendoza | [A peculiar syndrome of congenital abnormalities]. |
| 00B095 (1995) |
J P Fryns | Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13. |
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