| Ident. | Authors (with country if any) | Title |
|---|
| 000F25 (2016) |
Huan Hu [République populaire de Chine] ; Xueshan Xiao [République populaire de Chine] ; Shiqiang Li [République populaire de Chine] ; Xiaoyun Jia [République populaire de Chine] ; Xiangming Guo [République populaire de Chine] ; Qingjiong Zhang [République populaire de Chine] | KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. |
| 001046 (2016) |
Toshiki Takenouchi [Japon] ; Nobuhiko Okamoto [Japon] ; Shinobu Ida [Japon] ; Tomoko Uehara [Japon] ; Kenjiro Kosaki [Japon] | Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. |
| 001406 (2016) |
Florian Wünnemann [Allemagne] ; Victor Kokta [Canada] ; Séverine Leclerc [Canada] ; Maryse Thibeault [Canada] ; Catherine Mccuaig [Canada] ; Afshin Hatami [Canada] ; Chantal Stheneur [Canada] ; Jean-Christophe Grenier [Canada] ; Philip Awadalla [Canada] ; Grant A. Mitchell [Canada] ; Gregor Andelfinger [Canada] ; Christoph Preuss [Canada] | Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. |
| 001D77 (2015) |
Sang Kyung Seo [Corée du Sud] ; Kyu Yeun Kim [Corée du Sud] ; Seo Ae Han [Corée du Sud] ; Joon Seok Yoon [Corée du Sud] ; Sang-Yong Shin [Corée du Sud] ; Sang Kyun Sohn [Corée du Sud] ; Joon Ho Moon [Corée du Sud] | First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation |
| 002213 (2015) |
Patrick Frosk [Canada] ; Bernard Chodirker [Canada] ; Louise Simard [Canada] ; Wael El-Matary [Canada] ; Ana Hanlon-Dearman [Canada] ; Jeremy Schwartzentruber [Canada] ; Jacek Majewski [Canada] ; Cheryl Rockman-Greenberg [Canada] | A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature |
| 002248 (2015) |
Svetlana Melikhan-Revzin [Israël] ; Alina Kurolap [Israël] ; Efrat Dagan [Israël] ; Adi Mory [Israël] ; Ruth Gershoni-Baruch [Israël] | A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema. |
| 002251 (2015) |
N F Liu ; Z. Yu ; Y. Luo ; D. Sun ; Z. Yan | A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE. |
| 002252 (2015) |
Carolyn C. Jackson [États-Unis] ; Lucy Best [États-Unis] ; Lazaro Lorenzo [France] ; Jean-Laurent Casanova [États-Unis, France] ; Jochen Wacker [Allemagne] ; Simone Bertz [Allemagne] ; Abbas Agaimy [Allemagne] ; Thomas Harrer [Allemagne] | A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression |
| 002711 (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. |
| 002A29 (2014) |
Juehua Gao [États-Unis] ; Ryan D. Gentzler [États-Unis] ; Andrew E. Timms [États-Unis] ; Marshall S. Horwitz [États-Unis] ; Olga Frankfurt [États-Unis] ; Jessica K. Altman [États-Unis] ; Loann C. Peterson [États-Unis] | Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature |
| 002C19 (2014) |
Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi [États-Unis] ; Gretchen Parsons [États-Unis] ; Sarah Collins [États-Unis] ; Livija Medne [États-Unis] ; Carissa Adams [États-Unis] ; Thomas Ward [États-Unis] ; Bradley Davitt [États-Unis] ; Alma Bicknese [États-Unis] ; Elaine Zackai [États-Unis] ; Helga Toriello [États-Unis] ; William B. Dobyns [États-Unis] ; Susan Christian [États-Unis] | Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature |
| 002E24 (2014) |
R M Digiovanni ; R P Erickson ; E C Ohlson ; M. Bernas ; M H Witte | A novel FLT4 mutation identified in a patient with Milroy disease. |
| 003D03 (2012) |
M. Blein [France] ; L. Martin ; G. Lorette ; L. Vaillant ; F. Baulieu ; A. Maruani | [Primary lymphoedema in children]. |
| 004270 (2012) |
Neslihan Edeer Karaca [Turquie] ; Stephanie Boisson-Dupuis [États-Unis] ; Güzide Aksu [Turquie] ; Jacinta Bustamante [France] ; Gulsen Kandiloglu [Turquie] ; Nazan Ozsan [Turquie] ; Mine Hekimgil [Turquie] ; Jean-Laurent Casanova [États-Unis] ; Necil Kutukculer [Turquie] | Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency |
| 004443 (2012) |
S. Michelini [Italie] ; D. Degiorgio ; M. Cestari ; D. Corda ; M. Ricci ; M. Cardone ; A. Mander ; L. Famoso ; E. Contini ; R. Serrani ; L. Pinelli ; S. Cecchin ; M. Bertelli | Clinical and genetic study of 46 Italian patients with primary lymphedema. |
| 005492 (2010) |
Loïc Vaillant [France] ; Valérie Tauveron | [Primary lymphedema of limbs]. |
| 005677 (2010) |
Audrey C. Au [États-Unis] ; Paolo A. Hernandez [États-Unis] ; Ernest Lieber [États-Unis] ; Ali M. Nadroo [États-Unis] ; Yu-Ming Shen [États-Unis] ; Kevin A. Kelley [États-Unis] ; Bruce D. Gelb [États-Unis] ; George A. Diaz [États-Unis] | Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans |
| 005A58 (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). |
| 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 |
| 006404 (2009) |
F C Connell [Royaume-Uni] ; P. Ostergaard ; C. Carver ; G. Brice ; N. Williams ; S. Mansour ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Steve Jeffery | Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. |
| 006B92 (2008) |
Robert E. Ferrell [États-Unis] ; Mark A. Kimak ; Elizabeth C. Lawrence ; David N. Finegold | Candidate gene analysis in primary lymphedema. |
