mutated < mutation < mutational

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

List of bibliographic references indexed by mutation

Number of relevant bibliographic references: 102.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000537 (2017)	Aniel Jessica Leticia Brambila-Tapia [Mexique] ; José Elías García-Ortiz [Mexique] ; Pascal Brouillard [Belgique] ; Ha-Long Nguyen [Belgique] ; Miikka Vikkula [Belgique] ; Blanca Estela Ríos-González [Mexique] ; Roberto De Jesús Sandoval-Mu Iz [Mexique] ; Ana Karen Sandoval-Talamantes [Mexique] ; Lucina Bobadilla-Morales [Mexique] ; Jorge Román Corona-Rivera [Mexique] ; Lisette Arnaud-Lopez [Mexique]	GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
000737 (2017)	André Viveiros [Autriche] ; Marion Reiterer [Autriche] ; Benedikt Schaefer [Autriche] ; Armin Finkenstedt [Autriche] ; Stefan Schneeberger [Autriche] ; Hubert Schwaighofer [Autriche] ; Patrizia Moser [Autriche] ; Rudolf Sprenger [Autriche] ; Bernhard Glodny [Autriche] ; Wolfgang Vogel [Autriche] ; Andreas R. Janecke [Autriche] ; Heinz Zoller [Autriche]	CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
000805 (2017)	Heinrich Schlums [Suède] ; Moonjung Jung [États-Unis] ; Hongya Han [Suède] ; Jakob Theorell [Suède] ; Venetia Bigley [Royaume-Uni] ; Samuel C C. Chiang [Suède] ; David S J. Allan [États-Unis] ; Jan K. Davidson-Moncada [États-Unis] ; Rachel E. Dickinson [Royaume-Uni] ; Tim D. Holmes [Suède] ; Amy P. Hsu [États-Unis] ; Danielle Townsley [États-Unis] ; Thomas Winkler [États-Unis] ; Weixin Wang ; P L Aukrust [Norvège] ; Ingvild Nord Y [Norvège] ; Katherine R. Calvo ; Steve M. Holland [États-Unis] ; Matthew Collin [Royaume-Uni] ; Cynthia E. Dunbar [États-Unis] ; Yenan T. Bryceson [Suède]	Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.
000847 (2017)	Cumali Degirmenci [Turquie] ; Suzan Guven Yilmaz [Turquie] ; Huseyin Onay [Turquie] ; Melis Palamar [Turquie] ; Sema Kalkan Ucar [Turquie] ; Meral Kayikcioglu [Turquie] ; Mahmut Coker [Turquie]	A novel mutation and in vivo confocal microscopic findings in Fabry disease
000C04 (2016)	Colleen F. Macmurdo [États-Unis] ; Whitney Wooderchak-Donahue [États-Unis] ; Pinar Bayrak-Toydemir [États-Unis] ; Jenny Le [États-Unis] ; Matthew B. Wallenstein [États-Unis] ; Carlos Milla [États-Unis] ; Joyce M C. Teng [États-Unis] ; Jonathan A. Bernstein [États-Unis] ; David A. Stevenson [États-Unis]	RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
000D40 (2016)	Silvia Ricci [Italie] ; Francesca Romano [Italie] ; Francesco Nieddu [Italie] ; Capucine Picard [États-Unis, France] ; Chiara Azzari [Italie]	OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH
000D70 (2016)	Ganeswara Rao Musada [Inde] ; Hameed Syed [Inde] ; Subhadra Jalali [Inde] ; Subhabrata Chakrabarti [Inde] ; Inderjeet Kaur [Inde]	Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients
000F51 (2016)	Munenari Itoh [Japon] ; Shiho Kawagoe [Japon] ; Hirotaka James Okano [Japon] ; Hidemi Nakagawa [Japon]	Integration-free T cell-derived human induced pluripotent stem cells (iPSCs) from a patient with lymphedema-distichiasis syndrome (LDS) carrying an insertion-deletion complex mutation in the FOXC2 gene.
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.
001500 (2016)	M. L. Gonzalez-Garay [États-Unis] ; M. B. Aldrich [États-Unis] ; J. C. Rasmussen [États-Unis] ; R. Guilliod [États-Unis] ; P. E. Lapinski [États-Unis] ; P. D. King [États-Unis] ; E. M. Sevick-Muraca [États-Unis]	A novel mutation in CELSR1 is associated with hereditary lymphedema
001501 (2016)	Fatma Bastaki [Émirats arabes unis] ; Madiha Mohamed [Émirats arabes unis] ; Pratibha Nair [Émirats arabes unis] ; Fatima Saif [Émirats arabes unis] ; Nafisa Tawfiq [Émirats arabes unis] ; Mahmoud Taleb Al-Ali [Émirats arabes unis] ; Oliver Brandau [Allemagne] ; Abdul Rezzak Hamzeh [Émirats arabes unis]	A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
001A61 (2015)	Anja L. Frederiksen [Danemark] ; Martin J. Larsen [Danemark] ; Klaus Brusgaard [Danemark] ; Deborah V. Novack [États-Unis] ; Peter Juel Thiis Knudsen [Danemark] ; Henrik Daa Schr Der [Danemark] ; Weimin Qiu [Danemark] ; Christina Eckhardt [Danemark] ; William H. Mcalister [États-Unis] ; Moustapha Kassem [Danemark] ; Steven Mumm [États-Unis] ; Morten Frost [Danemark] ; Michael P. Whyte [États-Unis]	Neonatal High Bone Mass With First Mutation Of The NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)
001C21 (2015)	G. Morcaldi ; T. Bellini ; C. Rossi ; M. Maghnie ; F. Boccardo ; E. Bonioli ; C. Bellini	LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
001C99 (2015)	S. Moalem ; P. Brouillard ; D. Kuypers ; E. Legius ; E. Harvey ; G. Taylor ; M. Francois ; M. Vikkula ; D. Chitayat	Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.
002100 (2015)	Katrina Mears [États-Unis] ; Benjamin Bakall [États-Unis] ; Lisa A. Harney [États-Unis] ; Jessica A. Penticoff [États-Unis] ; Edwin M. Stone [États-Unis]	Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.
002210 (2015)	X. Huang [République populaire de Chine] ; N. Wang [République populaire de Chine] ; X. Xiao [République populaire de Chine] ; S. Li [République populaire de Chine] ; Q. Zhang [République populaire de Chine]	A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family
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.
002573 (2014)	Yasmin A. Lyons [États-Unis] ; Michael Frumovitz [États-Unis] ; Pamela T. Soliman [États-Unis]	Response to MEK inhibitor in small cell neuroendocrine carcinoma of the cervix with a KRAS mutation

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