| 000587 (2012) |
Filiz Hazan [Turquie] ; Pia Ostergaard [Royaume-Uni] ; Taylan Ozturk [Turquie] ; Esin Kantekin [Turquie] ; Fusun Atlihan [Turquie] ; Steve Jeffery [Royaume-Uni] ; Ferda Ozkinay [Turquie] | A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family |
| 000741 (2010) |
Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). |
| 000790 (2010) |
Catherine M. L. Roberts [Royaume-Uni] ; Janet E. Angus [Royaume-Uni] ; Ian H. Leach [Royaume-Uni] ; Elizabeth M. Mcdermott [Royaume-Uni] ; David A. Walker [Royaume-Uni] ; Jane C. Ravenscroft [Royaume-Uni] | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID) |
| 000811 (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. |
| 000B37 (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. |
| 000B60 (2005) |
R. M. Strauss [Royaume-Uni] ; A. D. Ferguson [Royaume-Uni] ; C. D. C. Rittey [Royaume-Uni] ; M. J. Cork [Royaume-Uni] | MICROCEPHALY–LYMPHOEDEMA–CHORIORETINAL–DYSPLASIA SYNDROME WITH ATRIAL SEPTAL DEFECT |
| 000D11 (2003) |
E D Carrol [Royaume-Uni] ; A R Gennery [Royaume-Uni] ; T J Flood [Royaume-Uni] ; G P Spickett ; M. Abinun [Royaume-Uni] | Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO |
| 000E42 (2001) |
S. Mansour [Royaume-Uni] ; H. Woffendin [Royaume-Uni] ; S. Mitton [Royaume-Uni] ; I. Jeffery [Royaume-Uni] ; T. Jakins [Royaume-Uni] ; S. Kenwrick [Royaume-Uni] ; V. A. Murday [Royaume-Uni] | Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection |
| 000106 (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. |
| 000387 (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 |
| 000440 (2013) |
Fc Connell [Royaume-Uni] ; K. Gordon [Royaume-Uni] ; G. Brice [Royaume-Uni] ; V. Keeley [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; P. Ostergaard [Royaume-Uni] | The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings |
| 000527 (2012) |
Muhammad A. Alvi [Royaume-Uni] ; Xinxue Liu [Royaume-Uni] ; Maria O Onovan [Royaume-Uni] ; Richard Newton [Royaume-Uni] ; Lorenz Wernisch [Royaume-Uni] ; Nicholas B. Shannon [Royaume-Uni] ; Kareem Shariff [Royaume-Uni] ; Massimiliano Di Pietro [Royaume-Uni] ; Jacques J G H M. Bergman [Pays-Bas] ; Krish Ragunath [Royaume-Uni] ; Rebecca C. Fitzgerald [Royaume-Uni] | DNA methylation as an adjunct to histopathology to detect prevalent, inconspicuous dysplasia and early-stage neoplasia in Barrett’s esophagus |
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Fc Connell [Royaume-Uni] ; K. Kalidas ; P. Ostergaard ; G. Brice [Royaume-Uni] ; V. Murday [Royaume-Uni] ; Ps Mortimer ; I. Jeffrey [Royaume-Uni] ; S. Jeffery ; Sahar Mansour [Royaume-Uni] | CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis |
| 000590 (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 [Royaume-Uni] ; 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 [Royaume-Uni] ; 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 |
| 000597 (2011) |
Malcolm Brodlie [Royaume-Uni] ; Sara Abdelgalil [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; David A. Spencer [Royaume-Uni] | Use of somatostatin analogues to treat chylothorax in a child with Generalised Lymphatic Dysplasia |
| 000725 (2010) |
Fiona Connell [Royaume-Uni] ; Kamini Kalidas ; Pia Ostergaard ; Glen Brice ; Tessa Homfray ; Lesley Roberts ; David J. Bunyan ; Sally Mitton ; Sahar Mansour ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Steve Jeffery | Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. |
| 000879 (2009) |
J. Timothy Wright [États-Unis] ; Clark Morris [États-Unis] ; Suzanne E. Clements [Royaume-Uni] ; Rena D'Souza [États-Unis] ; Olivier Gaide [Suisse] ; Marja Mikkola [Finlande] ; Jonathan Zonana [États-Unis] | Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II) |
| 000A94 (2006) |
Carlo Bellini [Italie] ; Raoul C. M. Hennekam [Royaume-Uni, Pays-Bas] ; Francesco Boccardo [Italie] ; Corradino Campisi [Italie] ; Giovanni Serra [Italie] ; Eugenio Bonioli [Italie] | Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia |
| 001374 (1993) |
Wei-Sean Winter [Royaume-Uni] | Distinctive autosomal or X‐linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face |
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M. H. A. Rustin [Royaume-Uni] ; C. B. Bunker [Royaume-Uni] ; J. J. H. Gilkes [Royaume-Uni] ; T. W. E. Robinson [Royaume-Uni] ; P. M. Dowd [Royaume-Uni] | Polyostotic fibrous dysplasia associated with extensive linear epidermal naevi |
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M. L. C. Tolmie [Royaume-Uni] ; Margaret Mcnay [Royaume-Uni] ; J. B. P. Stephenson [Royaume-Uni] ; D. Doyle [Royaume-Uni] ; J. M. Connor [Royaume-Uni] ; John M. Opitz ; James F. Reynolds | Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child |
