List of bibliographic references
Number of relevant bibliographic references: 39.
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20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 000174 (1999) |
C. Limwongse [États-Unis] ; R E Wyszynski ; L H Dickerman ; N H Robin | Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. |
| 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 |
| 001461 (1964) |
S. Giordano ; M. Depra | [DESCRIPTION OF A CASE OF SPORADIC CONGENITAL LYMPHEDEMA ASSOCIATED WITH OTHER CONGENITAL ANOMALIES]. |
| 001473 (1992) |
M. Feingold [États-Unis] ; L. Bartoshesky | Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? |
| 001766 (????) |
Alena Salim ; M. Pike ; R. Turner ; Peter Mortimer (dermatologue) | Lymphedema: an additional finding in the charge association. |
| 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. |
| 001F14 (????) |
R M Strauss ; A D Ferguson ; C D C. Rittey ; M J Cork | Microcephaly-lymphoedema-chorioretinal-dysplasia syndrome with atrial septal defect. |
| 002397 (2006) |
Inas Mazen [Égypte] ; Maha S. Zaki | Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema. |
| 002696 (2007) |
Karmen M. Trzupek [États-Unis] ; Rena E. Falk ; Joseph L. Demer ; Richard G. Weleber | Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. |
| 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]. |
| 003691 (2009) |
Abha Gupta [Royaume-Uni] ; P. Vasudevan ; S. Biswas ; J Clayton Smith ; Anthony T. Moore ; Chris Lloyd ; G. Dutton | Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature. |
| 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. |
| 004048 (2010) |
Yoshinori Ozeki ; Yoshiaki Shimada ; Atsuhiro Tanikawa ; Masayuki Horiguchi ; Masatomo Takeuchi ; Toshio Yamazaki | Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia. |
| 004999 (2011) |
Pushpinder Dhillon [États-Unis] ; James A. Bofill | Neu-Laxova syndrome: a prenatal diagnosis. |
| 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 |
| 004B67 (2012) |
Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; José L. Garcia-Perez [États-Unis, Espagne] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] ; Peter Strouse [États-Unis] ; Jeffrey W. Innis [États-Unis] ; Thomas W. Glover [États-Unis] | Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation |
| 004B85 (2012) |
Natalia Pastora [Espagne] ; Jesus Peralta ; Irene Canal-Fontcuberta ; Anna Grabowska ; Jose S. Pulido ; Jose Abelairas ; Felix Armada ; Alfredo Garcia-Alix | Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders. |
| 004E13 (2012) |
Filiz Hazan [Turquie] ; Pia Ostergaard ; Taylan Ozturk ; Esin Kantekin ; Fusun Atlihan ; Steve Jeffery ; Ferda Ozkinay | A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. |
| 004E81 (????) |
Maria N. Kelly [États-Unis] ; Nausheen Khuddus ; Silus Motamarry ; Sanjeev Tuli | Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome. |
| 006006 (2013) |
Gabriela E. Jones [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Denise Williams [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Angela F. Brady [Royaume-Uni] ; Isabel Spier [Allemagne] ; Filiz Hazan [Turquie] ; Oana Moldovan [Portugal] ; Dagmar Wieczorek [Allemagne] ; Barbara Mikat [Allemagne] ; Florence Petit [France] ; Christine Coubes [France] ; Robert A. Saul [États-Unis] ; Glen Brice [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Pradeep C. Vasudevan [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] | Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations |
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