0009-8981 < 0009-9163 < 0009-9228

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List of bibliographic references

Number of relevant bibliographic references: 66.
[20-40] [0 - 20][0 - 50][40-60]

Ident.	Authors (with country if any)	Title
002664 (2002)	M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre [France] ; R. Couderc ; M-P Vazquez [France]	FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
002958 (2001)	Jr Batanian [États-Unis] ; Dk Grange ; R. Fleming ; B. Gadre [États-Unis] ; J. Wetzel [États-Unis]	Two unbalanced translocations involving a common 6p25 region in two XY female patients
002A02 (2001)	Ka Rauen ; Sm Bitts ; L. Li [États-Unis] ; M. Golabi ; Pd Cotter	Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review
003081 (2000)	Jerzy Ebrak ; Barbara Skuza ; Andrzej Pogorzelski ; Renata Ligarska ; Ewa Kopytko ; Jacek Pawlik ; Ewa Rutkiewicz [Pologne] ; Michal Witt [Pologne]	Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis
003694 (1999)	A. Tsezou ; Ch Hadjiathanasiou ; D. Gourgiotis ; A. Galla ; Em Kavazarakis ; A. Pasparaki ; M. Kapsetaki ; C. Sismani [Chypre (pays)] ; Ch Theodoridis ; Pc Patsalis [Chypre (pays)] ; N. Moschonas ; S. Kitsiou	Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy
003B62 (1998)	J. Lespinasse ; C. Gicquel [France] ; M. Robert [France] ; Y. Le Bouc [France]	Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome
003B80 (1998)	Birsen Uçar ; Aysenur Ökten ; Hilal Mocan ; Cengiz Erçin [Turquie]	Noonan syndrome associated with central giant cell granuloma
003F80 (1997)	G. Mielke [Allemagne] ; H. Enders [Allemagne] ; R. Goelz [Allemagne] ; U. Klein-Vogler [Allemagne] ; R. Ulmer [Allemagne] ; U. Trautmann [Allemagne]	Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood
004007 (1997)	S. Spranger [Allemagne] ; S. Kirsch [Allemagne] ; A. Mertz [Allemagne] ; K. Schiebel [Allemagne] ; G. Tariverdian [Allemagne] ; G. A. Rappold [Allemagne]	Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
004424 (1996)	Catherine Turleau [France] ; Brigitte Simon-Bouy [France] ; Estelle Austruy [France] ; Marie-Claude Grisard [France] ; Françoise Lemaire [France] ; Denise Molina-Gomes [France] ; Jean-Pierre Siffroi [France] ; Joëlle Boué [France]	Parental origin and mechanisms of formation of three eases of 12p tetrasomy
004464 (1996)	C. L. Von Ballestrem [Allemagne] ; M. G. Boavida [Portugal] ; C. Zuther [Allemagne] ; M. H. Carreiro [Portugal] ; D. David [Portugal] ; A. Gal [Allemagne] ; E. Schwinger [Allemagne]	Jumping translocation in a phenotypically normal female
004543 (1996)	Izumi Akaboshi [Japon] ; Tetsuo Ikeda [Japon] ; Susumu Yoshioka [Japon]	Benign external hydrocephalus in a boy with autosomal dominant microcephaly
004572 (1996)	R. Straussberg [Israël] ; S. Gross [Israël] ; J. Amir [Israël] ; N. Gadoth [Israël]	A new autosomal recessive syndrome of pachygyria
004792 (1995)	A. Villa [Espagne] ; M. Urioste ; M. C. Carrascosa [Espagne] ; S. Vázquez [Espagne] ; A. Martínez [Espagne] ; M. L. Martínez-Frías [Espagne]	Pericentric inversions of chromosome 4: report of a new family and review of the literature
004797 (1995)	Jean-Pierre Fryns [Belgique] ; Eric Smeets [Belgique] ; H. Van Den Berghe [Belgique]	On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association
004798 (1995)	Bodil Edman Ahlbom [Suède] ; Niklas Dahl ; Per Zetterqvist [Suède] ; Goran Annerén	Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus
004863 (1995)	Christopher Cunniff [États-Unis] ; Susan J. Hassed [États-Unis] ; Amy E. Hendon [États-Unis] ; Vaughn I. Rickert [États-Unis]	Health care utilization and perceptions of health among adolescents and adults with Turner syndrome
004897 (1995)	Vijay Tonk [États-Unis] ; Herman E. Wyandt [États-Unis] ; Peter Osella [États-Unis] ; James Skare [États-Unis] ; Bai Lin Wu [États-Unis] ; Bassem Haddad [États-Unis] ; Aubrey Milunsky [États-Unis]	Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q
004C25 (1994)	G. Palka [Italie] ; G. Calabrese ; L. Stuppia [Italie] ; P. Guanciali Franchi ; E. Morizio [Italie] ; R. Peila [Italie] ; A. Antonucci	A woman with an apparent non‐mosaic 45,X delivered a 46,X,der(X) liveborn female
005351 (1991)	Lothar Pelz [Allemagne] ; Hellgard Köbschall [Allemagne] ; Ulla-Grit Lübcke [Allemagne] ; Gabriele Krüger [Allemagne] ; Georg-Klaus Hinkel [Allemagne] ; Günther Verron [Allemagne]	Long‐term follow‐up in females with Ullrich‐Turner syndrome
005380 (1991)	D. G. R. Evans	Dominantly inherited microcephaly, hypotelorism and normal intelligence

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