Pediatrics < Pedigree < Peer Review, Health Care

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List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000A65 (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.
000A82 (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.
000A96 (2016)	Carolyn C. Jackson [États-Unis] ; Lucy Best [États-Unis] ; Lazaro Lorenzo [France] ; Jean-Laurent Casanova [États-Unis] ; 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.
000B84 (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.
000E22 (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.
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.
001299 (2014)	Carole Sargent [Royaume-Uni] ; Julien Bauer ; Muhamed Khalil ; Parker Filmore ; Michael Bernas ; Marlys Witte ; M Peggy Pearson ; Robert P. Erickson	A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.
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.
001403 (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.
001459 (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.
001494 (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.
001545 (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.
001766 (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.
001777 (2014)	Rachel E. Dickinson [Royaume-Uni] ; Paul Milne ; Laura Jardine ; Sasan Zandi ; Sabina I. Swierczek ; Naomi Mcgovern ; Sharon Cookson ; Zaveyna Ferozepurwalla ; Alexander Langridge ; Sarah Pagan ; Andrew Gennery ; Tarja Heiskanen-Kosma ; Sari H M L Inen ; Mikko Sepp Nen ; Matthew Helbert ; Eleni Tholouli ; Eleonora Gambineri ; Sigrún Reykdal ; Magnús Gottfre Sson ; James E. Thaventhiran ; Emma Morris ; Gideon Hirschfield ; Alex G. Richter ; Stephen Jolles ; Chris M. Bacon ; Sophie Hambleton ; Muzlifah Haniffa ; Yenan Bryceson ; Carl Allen ; Josef T. Prchal ; John E. Dick ; Venetia Bigley ; Matthew Collin	The evolution of cellular deficiency in GATA2 mutation.
001808 (2013)	Yoji Ogura [Japon] ; Shoji Yabuki ; Aritoshi Iida ; Ikuyo Kou ; Masahiro Nakajima ; Hiroki Kano ; Masaaki Shiina ; Shinichi Kikuchi ; Yoshiaki Toyama ; Kazuhiro Ogata ; Masaya Nakamura ; Morio Matsumoto ; Shiro Ikegawa	FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.
001A92 (2013)	Sankalp Gokhale [États-Unis] ; Sanjay Gokhale	Four generations of rare familial lymphedema (Milroy disease).
001C09 (2013)	G. Brice ; P. Ostergaard ; S. Jeffery ; K. Gordon ; P S Mortimer ; S. Mansour	A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
001D01 (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.
001E33 (2012)	Neslihan Edeer Karaca [Turquie] ; Stephanie Boisson-Dupuis ; Güzide Aksu ; Jacinta Bustamante ; Gulsen Kandiloglu ; Nazan Ozsan ; Mine Hekimgil ; Jean-Laurent Casanova ; Necil Kutukculer	Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.
001E54 (2012)	Siham Al Sinani ; Yusria Al Rawahi ; Hamed Abdoon	Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.
001E89 (????)	Jianda Zhou [République populaire de Chine] ; Ming Li ; Chengqun Luo ; Quanyong He ; Zhaoqi Yin ; Hao Peng ; Zizi Chen ; Jiye Chen ; Shi Zhong ; Xie Huiqing	Giant neurofibroma in the right lower limb of a 26-year-old woman: report of a case.

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