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Serveur d'exploration sur le lymphœdème - Exploration (Accueil)

Index « ISSN » - entrée « 0340-6717 »
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0340-6245 < 0340-6717 < 0340-6997  Facettes :

List of bibliographic references indexed by 0340-6717

Number of relevant bibliographic references: 33.
[0-20] [0 - 20][0 - 33][20-32][20-40]
Ident.Authors (with country if any)Title
001783 (2015) Federica Conte [Pays-Bas, Italie] ; Martin Oti [Pays-Bas] ; Jill Dixon [Royaume-Uni] ; Carine E. L. Carels [Pays-Bas] ; Michele Rubini [Italie] ; Huiqing Zhou [Pays-Bas]Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts
001F22 (2015) Christelle Tesson [France] ; Jeanette Koht [Norvège] ; Giovanni Stevanin [France]Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
002D69 (2014) Lauren J. Massingham [États-Unis] ; Kirby L. Johnson [États-Unis] ; Thomas M. Scholl [États-Unis] ; Donna K. Slonim [États-Unis] ; Heather C. Wick ; Diana W. Bianchi [États-Unis]Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome
004281 (2012) Sha Tao ; Junjie Feng ; Timothy Webster ; Guangfu Jin ; Fang-Chi Hsu ; Shyh-Huei Chen ; Seong-Tae Kim ; Zhong Wang ; Zheng Zhang ; Siqun L. Zheng ; William B. Isaacs ; Jianfeng Xu ; Jielin SunGenome-wide two-locus epistasis scans in prostate cancer using two European populations
005A87 (2010) Arijit Mukhopadhyay [Pays-Bas, Inde] ; Jamie M. Kramer [Pays-Bas] ; Gerard Merkx [Pays-Bas] ; Dorien Lugtenberg [Pays-Bas] ; Dominique F. Smeets [Pays-Bas] ; Merel A. W. Oortveld [Pays-Bas] ; Ellen A. W. Blokland [Pays-Bas] ; Jyoti Agrawal [Inde] ; Annette Schenck [Pays-Bas] ; Hans Van Bokhoven [Pays-Bas] ; Erik Huys [Pays-Bas] ; Eric F. Schoenmakers [Pays-Bas] ; Ad Geurts Van Kessel [Pays-Bas] ; C. Erik Van Nouhuys [Pays-Bas] ; Frans P. M. Cremers [Pays-Bas]CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
006827 (2009) F. C. Connell [Royaume-Uni] ; P. Ostergaard [Royaume-Uni] ; C. Carver [Royaume-Uni] ; G. Brice [Royaume-Uni] ; N. Williams [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas
007002 (2008) Sajid Malik [Pakistan] ; Karl-Heinz Grzeschik [Allemagne]Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family
007A56 (2006) K L Lachlan [Royaume-Uni] ; S. Youings ; T. Costa ; P A Jacobs ; N S ThomasA clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
008626 (2005) Carolyn Sholto-Douglas-Vernon [Royaume-Uni] ; Rachel Bell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Mansoor Sarfarazi [États-Unis] ; Anne H. Child [Royaume-Uni] ; Alberto Smith [Royaume-Uni] ; Russell Mellor [Royaume-Uni] ; Kevin Burnand [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]Lymphoedema-distichiasis and FOXC2 : unreported mutations, de novo mutation estimate, families without coding mutations
00A138 (2001) R. Bell [Royaume-Uni] ; G. Brice [Royaume-Uni] ; A. H. Child [Royaume-Uni] ; V. A. Murday [Royaume-Uni] ; S. Mansour [Royaume-Uni] ; C. J. Sandy [Royaume-Uni] ; J. R. O. Collin [Royaume-Uni] ; A. F. Brady [Royaume-Uni] ; D. F. Callen [Australie] ; K. Burnand [Royaume-Uni] ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; S. Jeffery [Royaume-Uni]Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
00BF49 (1996) Claudia Geerkens [Allemagne] ; Walter Just [Allemagne] ; Karsten R. Held [Allemagne] ; Walther Vogel [Allemagne]Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X
00C117 (1996) Tomonobu Hasegawa [Japon] ; Tsutomu Ogata [Japon] ; Yukihiro Hasegawa [Japon] ; Masataka Honda [Japon] ; Toshiro Nagai [Japon] ; Yoshimitsu Fukushima [Japon] ; Yutaka Nakahori [Japon] ; Nobutake Matsuo [Japon]Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
00C484 (1995) Tsutomu Ogata [Japon] ; Nobutake Matsuo [Japon]Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features
00D319 (1992) Satoshi Ishii [Japon] ; Hitoshi Sakuraba [Japon] ; Yoshiyuki Suzuki [Japon]Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
00D419 (1992) Ulrich Müller [États-Unis] ; Vincent G. H. J. Kirkels [Pays-Bas] ; Jacques M. J. Scheres [Pays-Bas]Absence of Turner stigmata in a 46,XYp-female
00DB73 (1990) Eeva Therman [États-Unis] ; Barbara Susman [États-Unis]The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis
00E024 (1989) Michael A. Cantrell [États-Unis] ; James N. Bicknell [États-Unis] ; Roberta A. Pagon [États-Unis] ; David C. Page [États-Unis] ; David C. Walker [États-Unis] ; Howard M. Saal [États-Unis] ; Arthur B. Zinn [États-Unis] ; Christine M. Disteche [États-Unis]Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe
00F186 (1984) Lillian Skibsted [Danemark] ; H. Westh [Danemark] ; E. Niebuhr [Danemark]X long-arm deletions. A review of non-mosaic cases studied with banding techniques
00F477 (1983) E. B. Hook [États-Unis] ; Dorothy Warburton [États-Unis]The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
00F724 (1982) Daniela Larizza [Italie] ; Giuseppina Abbati [Italie] ; Renata Lorini [Italie] ; Alessandro Salvatoni [Italie] ; Francesca Severi [Italie]The turner phenotype and the different types of human X isochromosome
00F935 (1981) Priscila G. Otto [Brésil] ; Angela M. Vianna-Morgante [Brésil] ; Paulo A. Otto [Brésil] ; Anita Wajntal [Brésil]The turner phenotype and the different types of human X isochromsome

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