0009-8981 < 0009-9163 < 0009-9228

Facettes : Author.f

List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000302 (2010)	F. Connell ; G. Brice ; S. Jeffery ; V. Keeley ; P. Mortimer ; S. Mansour	A new classification system for primary lymphatic dysplasias based on phenotype
000372 (2006)		Subject index
000603 (1999)	A. Tsezou ; Ch Hadjiathanasiou ; D. Gourgiotis ; A. Galla ; Em Kavazarakis ; A. Pasparaki ; M. Kapsetaki ; C. Sismani ; Ch Theodoridis ; Pc Patsalis ; N. Moschonas ; S. Kitsiou	Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy
000676 (2010)		A ‐ Dysmorphology and Multiple Anomalies
000804 (1987)	H. Kawashima ; N. Tsuji	Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son
000A46 (1979)	Jane L. Burns ; Judith G. Hall ; Ellen Powers ; James B. Callis ; Holger Hoehn	No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome
000A58 (1985)	Alexander K. C. Leung	Dominantly inherited syndrome of microcephaly and congenital lymphedema
000D41 (1996)	C. L. Von Ballestrem ; M. G. Boavida ; C. Zuther ; M. H. Carreiro ; D. David ; A. Gal ; E. Schwinger	Jumping translocation in a phenotypically normal female
001003 (2013)	A. Zampetti ; L. Fania ; D. Antuzzi ; F. Giurdanella ; M. Gnarra ; F. Bertola ; S. Lualdi ; M. Filocamo ; A. Morrone ; C. Feliciani	Mutation identification of Fabry disease in families with other lysosomal storage disorders
001A27 (2013)	G. Brice ; P. Ostergaard ; S. Jeffery ; K. Gordon ; Ps Mortimer ; S. Mansour	A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
001B31 (1996)	R. Straussberg ; S. Gross ; J. Amir ; N. Gadoth	A new autosomal recessive syndrome of pachygyria
001C29 (1984)	Helena K Ri Inen	Hereditary lymphedema: a new combination of symptoms not fitting into present classifications
001D34 (1986)	J. A. Delgado ; C. M. Trahms ; V. P. Sybert	Measurement of body fat in Turner syndrome
002015 (1995)	Christopher Cunniff ; Susan J. Hassed ; Amy E. Hendon ; Vaughn I. Rickert	Health care utilization and perceptions of health among adolescents and adults with Turner syndrome
002242 (1974)	Gloria E. Sarto ; Eeva Therman ; Klaus Patau	Increased Q fluorescence of an inactive Xq— chromosome in man
002341 (1977)	A. G. W. Hunter ; M. Ray ; H. S. Wang ; D. R. Thompson	Phenotypic correlations in patients with ring chromosome 22
002366 (1995)	Jean-Pierre Fryns ; Eric Smeets ; H. Van Den Berghe	On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association
002792 (1998)	Birsen Uçar ; Aysenur Ökten ; Hilal Mocan ; Cengiz Erçin	Noonan syndrome associated with central giant cell granuloma
002853 (1976)	M. Preus	A screening test for patients suspected of having Turner syndrome
002A12 (2007)	S. Kumar ; C. Carver ; S. Mccall ; G. Brice ; P. Ostergaard ; P. Mortimer ; S. Jeffery	A family with lymphoedema‐distichiasis where identical twins have a discordant phenotype
002C36 (1997)	S. Spranger ; S. Kirsch ; A. Mertz ; K. Schiebel ; G. Tariverdian ; G. A. Rappold	Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

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