List of bibliographic references indexed by Hum Genet
Number of relevant bibliographic references: 26.
[0-20] [
0 - 20][
0 - 26][
20-25][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 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 |
| 00F941 (1981) |
Shirley Hodgson [Royaume-Uni] ; Daniel Chiu [Royaume-Uni] ; Paul Polani [Royaume-Uni] | Sexual development of patients with isochromosomes for the long arm of the X chromosome |
| 00FB59 (1980) |
Z. Pap [Hongrie] ; T. Bir [Hongrie] ; L. Szab [Hongrie] ; Z. Papp [Hongrie] | Syndrome of lymphoedema and distichiasis |
| 00FB85 (1980) |
Thelma Brown [Royaume-Uni] ; Forbes W. Robertson [Royaume-Uni] ; Blanche M. Dawson [Royaume-Uni] ; Sheila J. Hanlin [Royaume-Uni] ; Brenda M. Page [Royaume-Uni] | Individual variation of centric heterochromatin in man |
| 00FC13 (1980) |
Erica M. Bühler [Suisse] | A synopsis of the human Y chromosome |
| 00FD53 (1979) |
Paola Maraschio [Italie] ; C. Danesino [Italie] ; Angiolina Garau [Italie] ; V. Saputo [Italie] ; V. Vigi [Italie] ; S. Volpato [Italie] | Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation |
| 00FD67 (1979) |
Eeva Therman [États-Unis] ; Gloria E. Sarto [États-Unis] ; Catherine G. Palmer [États-Unis] ; Hanna Kallio [États-Unis] ; Carter Denniston [États-Unis] | Position of the human X inactivation center on Xq |
| 010187 (1977) |
Hans Georg Jester [Allemagne] | Lymphedema — Distichiasis |
| 010200 (1977) |
John T. Martsolf [Canada] ; M. Ray [Canada] ; Fred Bauder [Canada] ; Rod Boychuk [Canada] ; J. D. Armstrong [Canada] | Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21 |
| 010202 (1977) |
T. Reed [États-Unis] ; A. Reichmann [Argentine] ; C. G. Palmer [États-Unis] | Dermatoglyphic differences between 45,X and other chromosomal abnormalities of Turner syndrome |
| 010343 (1976) |
P. Kaiser ; B. Zabel ; S. Hansen ; E. Daume | Short arm deletion of an X chromosome, 46,XXp- |
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