| Ident. | Authors (with country if any) | Title |
|---|
| 000633 (2017) |
Hong-Yan Liu [République populaire de Chine] ; Ji-Fang Xiao [République populaire de Chine] ; Jia Huang [République populaire de Chine] ; Yue Wang [République populaire de Chine] ; Dong Wu [République populaire de Chine] ; Tao Li [République populaire de Chine] ; Hong-Dan Wang [République populaire de Chine] ; Liang-Jie Guo [République populaire de Chine] ; Qian-Nan Guo [République populaire de Chine] ; Hai Xiao [République populaire de Chine] ; Xue Lyu [République populaire de Chine] ; Zheng-Hong Yu [République populaire de Chine] | Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family |
| 001244 (2016) |
Suna Kaymak [Turquie] ; Zarife Kulo Lu ; Nazan Çobano Lu ; Gülen E. Utine ; Aydan Kansu | Congenital multisegmental lymphatic dysplasia with systemic involvement: a case report. |
| 001602 (2015) |
Anna Lübking [Suède] ; Sebastian Vosberg [Allemagne] ; Nikola P. Konstandin [Allemagne] ; Annika Dufour [Allemagne] ; Alexander Graf [Allemagne] ; Stefan Krebs [Allemagne] ; Helmut Blum [Allemagne] ; Axel Weber [Allemagne] ; Stig Lenhoff [Suède] ; Mats Ehinger [Suède] ; Karsten Spiekermann [Allemagne] ; Philipp A. Greif [Allemagne] ; Jörg Cammenga [Suède] | Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation |
| 001653 (2015) |
Zohaib Gulzar Naqvi [Pakistan] ; Irfan Rao [Pakistan] ; Wahid Anwer [Pakistan] ; Tahir Yaseen [Pakistan] | Two-stage release in Streeter's dysplasia |
| 001A84 (2015) |
Wieslaw H. Trzeciak [Pologne] ; Ryszard Koczorowski [Pologne] | Molecular basis of hypohidrotic ectodermal dysplasia: an update |
| 001C55 (2015) |
Makoto Mihara [Japon] ; Hisako Hara [Japon] ; Jun Shibasaki [Japon] ; Yukio Seki [Japon] ; Akitatsu Hayashi [Japon] ; Takuya Iida [Japon] ; Shinya Adachi [Japon] ; Yasushi Uchida [Japon] ; Hideo Kaneko [Japon] ; Makiko Haragi [Japon] ; Arata Murakami [Japon] | Indocyanine green lymphography and lymphaticovenous anastomosis for generalized lymphatic dysplasia with pleural effusion and ascites in neonates. |
| 001C71 (2015) |
Viktor Lukacs [États-Unis] ; Jayanti Mathur [États-Unis] ; Rong Mao [États-Unis] ; Pinar Bayrak-Toydemir [États-Unis] ; Melinda Procter [États-Unis] ; Stuart M. Cahalan [États-Unis] ; Helen J. Kim [États-Unis] ; Michael Bandell [États-Unis] ; Nicola Longo [États-Unis] ; Ronald W. Day [États-Unis] ; David A. Stevenson [États-Unis] ; Ardem Patapoutian [États-Unis] ; Bryan L. Krock [États-Unis] | Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia |
| 002368 (2014) |
Deepan Mathur ; Santhosh Somashekar ; Cristina Navarrete ; Maria M. Rodriguez | Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing |
| 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. |
| 002870 (2014) |
C. Bellini ; G. Villa ; G. Sambuceti ; C. Traggiai ; C. Campisi ; T. Bellini ; G. Morcaldi ; D. Massocco ; E. Bonioli ; F. Boccardo | Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia. |
| 002B49 (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. |
| 003357 (2013) |
Marijke De Bock ; Marianne Kerrebrouck ; Nan Wang ; Luc Leybaert | Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? |
| 003A34 (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 |
| 004122 (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. |
| 004396 (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 |
| 004832 (2012) |
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 |
| 004837 (2012) |
Patcharawan Silthampitag [Australie] ; Iven Klineberg [Australie] ; Bruce Austin [Australie] ; Allan S. Jones [Australie] | Bone microarchitecture at oral implant sites in ectodermal dysplasia (ED): a comparison between males and females |
| 004879 (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 |
| 004A13 (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 |
| 004C91 (2011) |
Marjorie Hubeau [France] ; Flora Ngadjeua [France] ; Anne Puel [France] ; Laura Israel [France] ; Jacqueline Feinberg [France] ; Maya Chrabieh [France] ; Kiran Belani [États-Unis] ; Christine Bodemer [France] ; Isabelle Fabre [France] ; Alessandro Plebani [Italie] ; Stéphanie Boisson-Dupuis [France, États-Unis] ; Capucine Picard [France] ; Alain Fischer [France] ; Alain Israel [France] ; Laurent Abel [France, États-Unis] ; Michel Veron [France] ; Jean-Laurent Casanova [France, États-Unis] ; Fabrice Agou [France] ; Jacinta Bustamante [France] | New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein |
| 004E37 (2011) |
Michael D. Keller [États-Unis] ; Maureen Petersen [États-Unis] ; Peck Ong [États-Unis] ; Joseph Church [États-Unis] ; Kimberly Risma [États-Unis] ; Jon Burham [États-Unis] ; Ashish Jain [États-Unis] ; E. Richard Stiehm [États-Unis] ; Eric P. Hanson [États-Unis] ; Gulbu Uzel [États-Unis] ; Matthew A. Deardorff [États-Unis] ; Jordan S. Orange [États-Unis] | Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations |
