List of bibliographic references indexed by Karyotyping
Number of relevant bibliographic references: 37.
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| Ident. | Authors (with country if any) | Title |
|---|
| 000A89 (2016) |
Satoshi Saida [Japon] ; Katsutsugu Umeda [Japon] ; Takahiro Yasumi [Japon] ; Akane Matsumoto [Japon] ; Itaru Kato [Japon] ; Hidefumi Hiramatsu [Japon] ; Osamu Ohara [Japon] ; Toshio Heike [Japon] ; Souichi Adachi [Japon] | Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. |
| 000A98 (2016) |
Jessie Mcclelland [Australie] ; Bronwyn Burgess [Australie] ; Patricia Crock [Australie] ; Himanshu Goel [Australie] | Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor. |
| 001A92 (2015) |
Sarar Mohamed ; Edna F. Roche ; Hilary M C V. Hoey | Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience. |
| 002A29 (2014) |
Juehua Gao [États-Unis] ; Ryan D. Gentzler [États-Unis] ; Andrew E. Timms [États-Unis] ; Marshall S. Horwitz [États-Unis] ; Olga Frankfurt [États-Unis] ; Jessica K. Altman [États-Unis] ; Loann C. Peterson [États-Unis] | Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature |
| 003800 (2013) |
H T El-Bassyouni [Égypte] ; A. El-Gerzawy ; O. Eid ; M O El-Ruby | Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome. |
| 004316 (2012) |
Y-S Yang [Taïwan] ; G-C Ma ; J-C Shih ; C-P Chen ; C-H Chou ; K-T Yeh ; S-J Kuo ; T-H Chen ; W-L Hwu ; T-H Lee ; M. Chen | Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis. |
| 007061 (2007) |
Thomas Morgan [États-Unis] | Turner syndrome: diagnosis and management. |
| 007644 (2007) |
Anita Rauch [Allemagne] ; Helmuth-Günther Dörr | Chromosome 5q subtelomeric deletion syndrome |
| 007A56 (2006) |
K L Lachlan [Royaume-Uni] ; S. Youings ; T. Costa ; P A Jacobs ; N S Thomas | A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. |
| 007A89 (2006) |
Emily M. Lambert [États-Unis] ; James Dziura [États-Unis] ; Lynda Kauls [États-Unis] ; Mark Mercurio [États-Unis] ; Richard J. Antaya [États-Unis] | Yellow Nail Syndrome in Three Siblings: A Randomized Double‐Blind Trial of Topical Vitamin E |
| 008542 (2005) |
Eugenio Bonioli [Italie] ; Raoul C. Hennekam [Pays-Bas] ; Gianantonio Spena [Italie] ; Guido Morcaldi [Italie] ; Antonio Di Stefano [Italie] ; Giovanni Serra [Italie] ; Carlo Bellini [Italie] | Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia |
| 008715 (2004) |
Mariam Patrícia Auada [Brésil] ; Maria Letícia Cintra ; Maria Beatriz Puzzi ; Danilo Viana ; Denise Pontes Cavalcanti | Scalp lesions in Turner syndrome: a result of lymphoedema? |
| 008795 (2004) |
Valeria Brazzelli [Italie] ; Daniela Larizza ; Miriam Martinetti ; Sara Martinoli ; Valeria Calcaterra ; Annalisa De Silvestri ; Roberta Pandolfi ; Giovanni Borroni | Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients. |
| 009226 (2003) |
Anita Rauch [Allemagne] ; Maike Beese [Allemagne] ; Ertan Mayatepek [Allemagne] ; Helmut-Günther Dörr [Allemagne] ; Dieter Wenzel [Allemagne] ; André Reis [Allemagne] ; Udo Trautmann [Allemagne] | A novel 5q35.3 subtelomeric deletion syndrome |
| 009673 (2002) |
Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review |
| 009953 (2001) |
M. Sood [Inde] ; A. Trehan | Turner's syndrome in infancy. |
| 009E68 (2001) |
Mieke M. Van Haelst [Pays-Bas] ; Jeannette Hoogeboom [Pays-Bas] ; Robert-Jan H. Galjaard [Pays-Bas] ; Wim J. Kleijer [Pays-Bas] ; Nicolette S. Den Hollander [Pays-Bas] ; Ronald R. De Krijger [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] ; Martinus F. Niermeijer [Pays-Bas] | Lymphangiectasia with persistent Müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome |
| 00A031 (2001) |
Catherine A. Boucher ; Carole A. Sargent ; Tsutomu Ogata ; Nabeel A. Affara | Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location [Original article] [Original article] |
| 00A729 (2000) |
Lars S Vendahl [États-Unis] ; Marsha L. Davenport [États-Unis] | Delayed diagnoses of Turner’s syndrome: Proposed guidelines for change |
| 00AA12 (1999) |
F. Haverkamp [Allemagne] ; J. Wölfle ; K. Zerres ; O. Butenandt ; P. Amendt ; B P Hauffa ; E. Weimann ; M. Bettendorf ; E. Keller ; R. Mühlenberg ; C J Partsch ; W G Sippell ; C. Hoppe | Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure. |
| 00AD75 (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 |
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