Lymphangiectasis, Intestinal (etiology) < Lymphangiectasis, Intestinal (genetics) < Lymphangiectasis, Intestinal (immunology)

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List of bibliographic references indexed by Lymphangiectasis, Intestinal (genetics)

Number of relevant bibliographic references: 13.

Ident.	Authors (with country if any)	Title
000532 (2017)	Garry Cooper	Genetics and lymphoedema: a future yet to be fully discovered.
000647 (2017)	Francoise Pujol [Suède] ; Tina Hodgson [Suède] ; Ines Martinez-Corral [Suède] ; Anne-Catherine Prats [Suède] ; Danelle Devenport [Suède] ; Masatoshi Takeichi [Suède] ; Elisabeth Genot [Suède] ; Taija M Kinen [Suède] ; Philippa Francis-West [Suède] ; Barbara Garmy-Susini [Suède] ; Florence Tatin [France]	Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report.
001958 (2015)	Sarah F. Pollack [États-Unis] ; Alexandra L. Geffrey [États-Unis] ; Elizabeth A. Thiele [États-Unis] ; Uzma Shah [États-Unis]	Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
001A41 (2015)	Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni]	Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
001D60 (2015)	M Guy Roukens ; Josi Peterson-Maduro ; Yvonne Padberg ; Michael Jeltsch ; Veli-Matti Lepp Nen ; Frank L. Bos ; Kari Alitalo [Finlande] ; Stefan Schulte-Merker ; Dörte Schulte [Allemagne]	Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
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
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
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.
003984 (2013)	Sohela Shah [États-Unis] ; Laura K. Conlin [États-Unis] ; Luis Gomez [États-Unis] ; Ystein Aagenaes [Norvège] ; Kristin Eiklid [Norvège] ; A. S. Knisely [Royaume-Uni] ; Michael T. Mennuti [États-Unis] ; Randolph P. Matthews [États-Unis] ; Nancy B. Spinner [États-Unis] ; Laura N. Bull [États-Unis]	CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops
004070 (2012)	Siham Al Sinani ; Yusria Al Rawahi ; Hamed Abdoon	Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia
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
00BB02 (1997)	Brad Angle [États-Unis] ; Joseph H. Hersh [États-Unis]	Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
00E093 (1989)	R. C. M. Hennekam [Pays-Bas] ; R. A. Geerdink [Pays-Bas] ; B. C. J. Hamel [Pays-Bas] ; F. A. M. Hennekam [Pays-Bas] ; P. Kraus [Pays-Bas] ; J. A. Rammeloo [Pays-Bas] ; A. A. W. Tillemans [Pays-Bas]	Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

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