Pediatrics < Pedigree < Peer Review, Health Care

Facettes : Author.f AffPays.f AffRegion.f AffVille.f AffOrg.f KwdFr.f Mesh.f MeshFr.f

List of bibliographic references indexed by Pedigree

Number of relevant bibliographic references: 130.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000A89 (2016)	Satoshi Saida [Japon] ; Katsutsugu Umeda [Japon] ; Takahiro Yasumi [Japon] ; Akane Matsumoto [Japon] ; Itaru Kato [Japon] ; Hidefumi Hiramatsu [Japon] ; Osamu Ohara [Japon] ; Toshio Heike [Japon] ; Souichi Adachi [Japon]	Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.
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.
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
002422 (2014)	Rachel E. Dickinson [Royaume-Uni] ; Paul Milne [Royaume-Uni] ; Laura Jardine [Royaume-Uni] ; Sasan Zandi [Canada] ; Sabina I. Swierczek [États-Unis] ; Naomi Mcgovern [Royaume-Uni] ; Sharon Cookson [Royaume-Uni] ; Zaveyna Ferozepurwalla [Royaume-Uni] ; Alexander Langridge [Royaume-Uni] ; Sarah Pagan [Royaume-Uni] ; Andrew Gennery [Royaume-Uni] ; Tarja Heiskanen-Kosma [Finlande] ; Sari H M L Inen [Finlande] ; Mikko Sepp Nen [Finlande] ; Matthew Helbert ; Eleni Tholouli [Royaume-Uni] ; Eleonora Gambineri [Italie] ; Sigrún Reykdal [Islande] ; Magnús Gottfre Sson [Islande] ; James E. Thaventhiran [Royaume-Uni] ; Emma Morris [Royaume-Uni] ; Gideon Hirschfield ; Alex G. Richter [Royaume-Uni] ; Stephen Jolles [Royaume-Uni] ; Chris M. Bacon [Royaume-Uni] ; Sophie Hambleton [Royaume-Uni] ; Muzlifah Haniffa [Royaume-Uni] ; Yenan Bryceson [Suède] ; Carl Allen [États-Unis] ; Josef T. Prchal [États-Unis] ; John E. Dick [Canada] ; Venetia Bigley [Royaume-Uni] ; Matthew Collin [Royaume-Uni]	The evolution of cellular deficiency in GATA2 mutation
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.
002A33 (2014)	Mariëlle Alders [Pays-Bas] ; Lihadh Al-Gazali ; Isabelle Cordeiro ; Bruno Dallapiccola ; Livia Garavelli ; Beyhan Tuysuz ; Faranak Salehi ; Martin A. Haagmans ; Olaf R. Mook ; Charles B. Majoie ; Marcel M. Mannens ; Raoul C. Hennekam	Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
002A58 (2014)	E S West [États-Unis] ; M Y Kingsbery ; E M Mintz ; A P Hsu ; S M Holland ; P L Rady ; S K Tyring ; M E Grossman	Generalized verrucosis in a patient with GATA2 deficiency.
002E23 (2014)	Emilia Balboa-Beltran [Espagne] ; María J. Fernández-Seara [Espagne] ; Alejandro Pérez-Mu Uzuri [Espagne] ; Ram N Lago [Espagne] ; Carlos García-Magán [Espagne] ; María L. Couce [Espagne] ; Beatriz Sobrino [Espagne] ; Jorge Amigo [Espagne] ; Angel Carracedo [Arabie saoudite] ; Francisco Barros [Espagne]	A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
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.
002E64 (2014)	Carole Sargent [Royaume-Uni] ; Julien Bauer [Royaume-Uni] ; Muhamed Khalil [États-Unis] ; Parker Filmore [États-Unis] ; Michael Bernas [États-Unis] ; Marlys Witte [États-Unis] ; M. Peggy Pearson [États-Unis] ; Robert P. Erickson [États-Unis]	A Five Generation Family with a Novel Mutation in FOXC2 and Lymphedema Worsening to Hydrops in the Youngest Generation
002E70 (2014)	L-L Zhu [République populaire de Chine] ; Y-N Lv ; H-D Chen ; X-H Gao	A Chinese pedigree of lymphoedema-distichiasis syndrome with a novel mutation in the FOXC2 gene.
003374 (2013)	Kristiana Gordon [Royaume-Uni] ; Dörte Schulte ; Glen Brice ; Michael A. Simpson ; M Guy Roukens ; Andreas Van Impel ; Fiona Connell ; Kamini Kalidas ; Steve Jeffery ; Peter S. Mortimer ; Sahar Mansour ; Stefan Schulte-Merker ; Pia Ostergaard	Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.
003631 (2013)	Sankalp Gokhale [États-Unis] ; Sanjay Gokhale	Four generations of rare familial lymphedema (Milroy disease).
003983 (2013)	Yoji Ogura [Japon] ; Shoji Yabuki [Japon] ; Aritoshi Iida [Japon] ; Ikuyo Kou [Japon] ; Masahiro Nakajima [Japon] ; Hiroki Kano [Japon] ; Masaaki Shiina [Japon] ; Shinichi Kikuchi [Japon] ; Yoshiaki Toyama [Japon] ; Kazuhiro Ogata [Japon] ; Masaya Nakamura [Japon] ; Morio Matsumoto [Japon] ; Shiro Ikegawa [Japon]	FOXC2 Mutations in Familial and Sporadic Spinal Extradural Arachnoid Cyst
003C43 (2013)	G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour	A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
004070 (2012)	Siham Al Sinani ; Yusria Al Rawahi ; Hamed Abdoon	Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia
004075 (2012)	Edyta Sutkowska [Pologne] ; Justyna Gil ; Agnieszka Stembalska ; Aneta Hill-Bator ; Andrzej Szuba	Novel mutation in the FOXC2 gene in three generations of a family with lymphoedema-distichiasis syndrome.
004094 (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
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

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