DNA Methylation < DNA Mutational Analysis < DNA Primers

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List of bibliographic references

Number of relevant bibliographic references: 35.
[0-20] [0 - 20][0 - 35][20-34][20-40]

Ident.	Authors (with country if any)	Title
000848 (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.
000897 (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.
000904 (2016)	Sang Kyung Seo [Corée du Sud] ; Kyu Yeun Kim [Corée du Sud] ; Seo Ae Han [Corée du Sud] ; Joon Seok Yoon [Corée du Sud] ; Sang-Yong Shin [Corée du Sud] ; Sang Kyun Sohn [Corée du Sud] ; Joon Ho Moon [Corée du Sud]	First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation.
000A67 (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.
000B08 (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.
000B25 (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.
001115 (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.
001136 (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.
001138 (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.
001347 (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.
001520 (2014)	Juehua Gao [États-Unis] ; Ryan D. Gentzler ; Andrew E. Timms ; Marshall S. Horwitz ; Olga Frankfurt ; Jessica K. Altman ; Loann C. Peterson	Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.
001602 (2014)	Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi ; Gretchen Parsons ; Sarah Collins ; Livija Medne ; Carissa Adams ; Thomas Ward ; Bradley Davitt ; Alma Bicknese ; Elaine Zackai ; Helga Toriello ; William B. Dobyns ; Susan Christian	Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
001698 (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.
001D13 (2012)	M. Blein [France] ; L. Martin ; G. Lorette ; L. Vaillant ; F. Baulieu ; A. Maruani	[Primary lymphoedema in children].
002032 (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.
002124 (2012)	S. Michelini [Italie] ; D. Degiorgio ; M. Cestari ; D. Corda ; M. Ricci ; M. Cardone ; A. Mander ; L. Famoso ; E. Contini ; R. Serrani ; L. Pinelli ; S. Cecchin ; M. Bertelli	Clinical and genetic study of 46 Italian patients with primary lymphedema.
002618 (2010)	Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra ; Karn Wejathikul ; Wirawit Piyamongkol	c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient.
002633 (2010)	Loïc Vaillant [France] ; Valérie Tauveron	[Primary lymphedema of limbs].
002746 (2010)	Audrey C. Au [États-Unis] ; Paolo A. Hernandez ; Ernest Lieber ; Ali M. Nadroo ; Yu-Ming Shen ; Kevin A. Kelley ; Bruce D. Gelb ; George A. Diaz	Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.
002830 (2010)	Fiona Connell [Royaume-Uni] ; Kamini Kalidas ; Pia Ostergaard ; Glen Brice ; Tessa Homfray ; Lesley Roberts ; David J. Bunyan ; Sally Mitton ; Sahar Mansour ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery	Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
002980 (2010)	Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

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