0009-9104 < 0009-9163 < 0009-9201

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List of bibliographic references indexed by 0009-9163

Number of relevant bibliographic references: 67.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
001A72 (2015)	Martin Koenighofer [Autriche] ; Christina Y. Hung [États-Unis] ; Jacob L. Mccauley [États-Unis] ; Julia Dallman [États-Unis] ; Emma J. Back [États-Unis] ; Ivana Mihalek [Singapour] ; Karen W. Gripp [États-Unis] ; Katia Sol-Church [États-Unis] ; Paolo Rusconi [États-Unis] ; Zhaiyi Zhang [États-Unis] ; Geng-Xian Shi [États-Unis] ; Douglas A. Andres [États-Unis] ; Olaf A. Bodamer [États-Unis]	Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype
003A34 (2013)	Fc Connell [Royaume-Uni] ; K. Gordon [Royaume-Uni] ; G. Brice [Royaume-Uni] ; V. Keeley [Royaume-Uni] ; S. Jeffery [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; P. Ostergaard [Royaume-Uni]	The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
003B07 (2013)	A. Zampetti ; L. Fania ; D. Antuzzi [Italie] ; F. Giurdanella ; M. Gnarra ; F. Bertola [Italie] ; S. Lualdi [Italie] ; M. Filocamo [Italie] ; A. Morrone [Italie] ; C. Feliciani	Mutation identification of Fabry disease in families with other lysosomal storage disorders
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
004788 (2012)	O. Lidove [France] ; P. Kaminsky [France] ; E. Hachulla [France] ; V. Leguy-Seguin [France] ; C. Lavigne [France] ; I. Marie [France] ; F. Maillot [France] ; C. Serratrice [France] ; A. Masseau [France] ; P. Chérin [France] ; J. Cabane [France] ; E. Noel [France]	Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
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
005274 (2011)	P. Ostergaard [Royaume-Uni] ; Ma Simpson [Royaume-Uni] ; S. Jeffery [Royaume-Uni]	Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit
005D49 (2010)	A. Masurel-Paulet ; J. Andrieux ; P. Callier ; Jm Cuisset ; C. Le Caignec ; M. Holder ; C. Thauvin-Robinet ; B. Doray ; E. Flori [France] ; Mp Alex-Cordier [France] ; M. Beri [France] ; O. Boute ; B. Delobel [France] ; A. Dieux ; L. Vallee ; S. Jaillard [France] ; S. Odent [France] ; B. Isidor ; C. Beneteau [France] ; J. Vigneron [France] ; F. Bilan [France] ; B. Gilbert-Dussardier [France] ; C. Dubourg [France] ; A. Labalme [France] ; C. Bidon [France] ; A. Gautier [France] ; P. Pernes [France] ; Jm Pinoit ; F. Huet [France] ; F. Mugneret ; B. Aral [France] ; P. Jonveaux [France] ; D. Sanlaville [France] ; L. Faivre [France]	Delineation of 15q13.3 microdeletions
005E27 (2010)		A ‐ Dysmorphology and Multiple Anomalies
005E29 (2010)	F. Connell ; G. Brice [Royaume-Uni] ; S. Jeffery ; V. Keeley [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Mansour [Royaume-Uni]	A new classification system for primary lymphatic dysplasias based on phenotype
007418 (2007)	C. Carver ; G. Brice ; S. Mansour ; P. Ostergaard ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery	Three children with Milroy disease and de novo mutations in VEGFR3
007553 (2007)	S-T Lee ; C-S Ki [États-Unis] ; Hj Lee [Corée du Sud]	Mutation analysis of the genes involved in the Ras‐mitogen‐activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome
007686 (2007)	S. Kumar [Arabie saoudite] ; C. Carver ; S. Mccall ; G. Brice ; P. Ostergaard ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery [Royaume-Uni]	A family with lymphoedema‐distichiasis where identical twins have a discordant phenotype
007B27 (2006)		Subject index
007C54 (2006)	A. Ghalamkarpour [Belgique] ; S. Morlot [Allemagne] ; A. Raas-Rothschild [Israël] ; A. Utkus [Lituanie] ; Jb Mulliken [États-Unis] ; Lm Boon [Belgique] ; M. Vikkula [Belgique]	Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
007D48 (2006)	Pa Rozenfeld [Argentine] ; A. Tarabuso ; R. Ebner ; G. Ramallo [Argentine] ; Ca Fossati	A successful approach for the detection of Fabry patients in Argentina
008362 (2005)	Ba Fernandez [Canada] ; J. Siegel-Bartelt ; J-As Herbrick [Canada] ; I. Teshima [Canada] ; Sw Scherer [Canada]	Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature
008F70 (2003)	P. Brouillard [Belgique] ; M. Vikkula [Belgique]	Vascular malformations: localized defects in vascular morphogenesis
009073 (2003)	H. Kim [Canada] ; Dj Dumont [Canada]	Molecular mechanisms in lymphangiogenesis: model systems and implications in human disease
009180 (2003)	Jm Milunsky [États-Unis] ; Dm Capin [États-Unis]	Cerebro–oculo–facial–lymphatic syndrome
009694 (2002)	D. Garcia-Cruz [Mexique] ; Le Figuera [Mexique] ; Jm Cantu [Mexique]	Inherited hypertrichoses

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