| Ident. | Authors (with country if any) | Title |
|---|
| 000E78 (2016) |
Irina Balikova [Royaume-Uni] ; Anthony G. Robson [Royaume-Uni] ; Graham E. Holder [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Anthony T. Moore [Royaume-Uni] | Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11. |
| 000F15 (2015) |
Matthieu J. Schlögel [Belgique] ; Antonella Mendola [Belgique] ; Elodie Fastré [Belgique] ; Pradeep Vasudevan [Royaume-Uni] ; Koen Devriendt [Belgique] ; Thomy J L. De Ravel [Belgique] ; Hilde Van Esch [Belgique] ; Ingele Casteels [Belgique] ; Ignacio Arroyo Carrera [Espagne] ; Francesca Cristofoli [Belgique] ; Karen Fieggen [Afrique du Sud] ; Katheryn Jones [États-Unis] ; Mark Lipson [États-Unis] ; Irina Balikova [Belgique] ; Ami Singer [Israël] ; Maria Soller [Suède] ; María Mercedes Villanueva [Argentine] ; Nicole Revencu [Belgique] ; Laurence M. Boon [Belgique] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] | No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. |
| 000F96 (2015) |
Katrina Mears [États-Unis] ; Benjamin Bakall [États-Unis] ; Lisa A. Harney [États-Unis] ; Jessica A. Penticoff [États-Unis] ; Edwin M. Stone [États-Unis] | Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. |
| 001241 (????) |
Rafael Fabiano Machado Rosa [Brésil] ; Flávia Enk [Brésil] ; Korine Camargo [Brésil] ; Giovanni Marco Travi [Brésil] ; André Freitas [Brésil] ; Rosana Cardoso Manique Rosa [Brésil] ; Carla Graziadio [Brésil] ; Vinicius Freitas De Mattos [Brésil] ; Paulo Ricardo Gazzola Zen [Brésil] | Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report. |
| 001388 (2014) |
Johane M. Robitaille [Canada] ; Roxanne M. Gillett [Canada] ; Marissa A. Leblanc [Canada] ; Daniel Gaston [Canada] ; Mathew Nightingale [Canada] ; Michael P. Mackley [Canada] ; Sandhya Parkash [Canada] ; Julie Hathaway [Canada] ; Aidan Thomas [Canada] ; Anna Ells [Canada] ; Elias I. Traboulsi [États-Unis] ; Elise Héon [Canada] ; Mélanie Roy [Canada] ; Stavit Shalev [Israël] ; Conrad V. Fernandez [Canada] ; Christine Macgillivray [Canada] ; Karin Wallace [Canada] ; Somayyeh Fahiminiya [Canada] ; Jacek Majewski [Canada] ; Christopher R. Mcmaster [Canada] ; Karen Bedard [Canada] | Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. |
| 001398 (2014) |
Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi ; Gretchen Parsons ; Sarah Collins ; Livija Medne ; Carissa Adams ; Thomas Ward ; Bradley Davitt ; Alma Bicknese ; Elaine Zackai ; Helga Toriello ; William B. Dobyns ; Susan Christian | Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. |
| 001804 (2014) |
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. |
| 002067 (????) |
Maria N. Kelly [États-Unis] ; Nausheen Khuddus ; Silus Motamarry ; Sanjeev Tuli | Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome. |
| 002108 (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. |
| 002222 (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. |
| 002232 (2012) |
Matthew G. Butler [États-Unis] ; Susan L. Dagenais ; José L. Garcia-Perez ; Pascal Brouillard ; Miikka Vikkula ; Peter Strouse ; Jeffrey W. Innis ; Thomas W. Glover | Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. |
| 002293 (2012) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson ; Antonella Mendola ; Pradeep Vasudevan ; Fiona C. Connell ; Andreas Van Impel ; Anthony T. Moore ; Bart L. Loeys ; Arash Ghalamkarpour ; Alexandros Onoufriadis ; Ines Martinez-Corral ; Sophie Devery ; Jules G. Leroy ; Lut Van Laer ; Amihood Singer ; Martin G. Bialer ; Meriel Mcentagart ; Oliver Quarrell ; Glen Brice ; Richard C. Trembath ; Stefan Schulte-Merker ; Taija Makinen ; Miikka Vikkula ; Peter S. Mortimer ; Sahar Mansour ; Steve Jeffery | Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. |
| 002303 (2011) |
Pushpinder Dhillon [États-Unis] ; James A. Bofill | Neu-Laxova syndrome: a prenatal diagnosis. |
| 002796 (2010) |
Yoshinori Ozeki ; Yoshiaki Shimada ; Atsuhiro Tanikawa ; Masayuki Horiguchi ; Masatomo Takeuchi ; Toshio Yamazaki | Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia. |
| 002A84 (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. |
| 002D05 (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. |
| 002E95 (2009) |
S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. Dedes | [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome]. |
| 003046 (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. |
| 003667 (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. |
| 003888 (2006) |
Inas Mazen [Égypte] ; Maha S. Zaki | Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema. |
| 003C31 (????) |
R M Strauss ; A D Ferguson ; C D C. Rittey ; M J Cork | Microcephaly-lymphoedema-chorioretinal-dysplasia syndrome with atrial septal defect. |
