List of bibliographic references
Number of relevant bibliographic references: 34.
[0-20] [
0 - 20][
0 - 34][
20-33][
20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 000C27 (2009) |
Caroline Schluth-Bolard [France] ; Damien Sanlaville [France] ; Audrey Labalme [France] ; Marianne Till [France] ; Laurence Michel-Calemard [France] ; Azim Rafat [France] ; Marie-Thérèse Zabot [France] ; Marc Nicolino [France] ; Laurent Guibaud [France] ; Patrick Edery [France] | Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype |
| 001405 (2007) |
Karmen M. Trzupek [États-Unis] ; Rena E. Falk [États-Unis] ; Joseph L. Demer [États-Unis] ; Richard G. Weleber [États-Unis] | Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype |
| 001765 (2006) |
Olivier Picone [France] ; Raphaël Hirt [France] ; Sophie Brisset [France] ; René Frydman [France] ; Marie-Victoire Senat [France] ; Gérard Tachdjian [France] | Double aneuploid mosaicism 45,X/46,XX/47,XX,+18 in a fetus with cerebral malformations |
| 001A85 (2005) |
Robert Wallerstein [États-Unis] ; Sivya Twersky [États-Unis] ; Paige Layman [États-Unis] ; Liz Kernaghan [États-Unis] ; Hana Aviv [États-Unis] ; Helio F. Pedro [États-Unis] ; Beth Pletcher [États-Unis] | Long term follow‐up of developmental delay in a child with prenatally‐diagnosed trisomy 20 mosaicism |
| 002157 (2004) |
S. M. Taibjee [Royaume-Uni] ; D. C. Bennett [Royaume-Uni] ; C. Moss [Royaume-Uni] | Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes |
| 002194 (2003) |
Isabel Lorda-Sanchez [Espagne] ; Maria Jose Trujillo [Espagne] ; Pilar Gomez-Garre [Espagne] ; Marta Rodríguez De Alba [Espagne] ; Cristina Gonzalez-Gonzalez [Espagne] ; Maria García-Hoyos [Espagne] ; Carmen Ayuso [Espagne] ; Carmen Ramos [Espagne] | Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism |
| 002561 (2002) |
V P Sybert [États-Unis] | Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome |
| 002598 (2002) |
S. Fengler [Allemagne] ; S. Fuchs [Allemagne] ; R. König [Allemagne] ; J. Arnemann [Allemagne] | Mosaicism for FMR1 and FMR2 deletion: a new case |
| 002601 (2002) |
Dieter Kotzot [Allemagne] ; Andreas Dufke [Allemagne] ; Andreas Tzschach [Allemagne] ; Iris-Tatjana Baeckert-Sifeddine [Allemagne] ; Martin. Geppert [Allemagne] ; Heidrun Holland [Allemagne] ; Jobst M. Florus [Allemagne] ; Ursula G. Froster [Allemagne] | Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype |
| 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 |
| 002A04 (2001) |
| Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome |
| 002A99 (2001) |
Joanne Blair [Royaume-Uni] ; John Tolmie [Royaume-Uni] ; Anne S. Hollman [Royaume-Uni] ; Malcolm D. C. Donaldson [Royaume-Uni] | Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty |
| 002B37 (2001) |
Jadwiga Jaruzelska ; Aleksandra Korcz ; Alina Wojda ; Piotr Jedrzejczak ; Joanna Bierla ; Tatiana Surmacz ; Leszek Pawelczyk ; David C. Page ; Maciej Kotecki | Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion |
| 002C26 (2001) |
Lars Hanson [Suède] ; Inger Bryman [Suède] ; Marie-Louise Barren S [Suède] ; Per-Olof Janson [Suède] ; Jan Wahlström [Suède] ; Kerstin Albertsson-Wikland [Suède] ; Charles Hanson [Suède] | Genetic Analysis of Mosaicism in 53 Women with Turner Syndrome |
| 003115 (2000) |
Mirella Bruttini ; Francesca Vitelli ; Ilaria Meloni ; Giuseppe Rizzari ; Mario Della Volpe ; Gianna Mazzucco ; Mario De Marchi ; Alessandra Renieri | Mosaicism in Alport syndrome and genetic counselling |
| 003619 (1999) |
Lillian Y. F. Hsu [États-Unis] ; Peter A. Benn [États-Unis] | Revised guidelines for the diagnosis of mosaicism in amniocytes |
| 003837 (1999) |
Ellen Magenis [États-Unis] ; Mary Jane Webb [États-Unis] ; Becky Spears [États-Unis] ; John M. Opitz [États-Unis] | Blaschkolinear malformation syndrome in complex trisomy‐7 mosaicism |
| 003A66 (1998) |
Peter Benn [États-Unis] | Trisomy 16 and trisomy 16 mosaicism: A review |
| 003D61 (1998) |
Michio Teraoka [Japon] ; Koji Narahara [Japon] ; Yuji Yokoyama [Japon] ; Kazushiro Tsuji [Japon] ; Kiyoshi Kikkawa [Japon] ; Satoko Ito [Japon] ; Kiyoko Koyama [Japon] ; Yoshiki Seino [Japon] | 45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals |
| 005558 (1990) |
Virginia P. Sybert [États-Unis] ; Roberta A. Pagon [États-Unis] ; Michael Donlan [États-Unis] ; Cynthia M. Bradley [États-Unis] | Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito |
| 005B13 (1987) |
Lillian Y. F. Hsu [États-Unis] ; Sara Kaffe ; Theresa E. Perlis | Trisomy 20 mosaicism in prenatal diagnosis–a review and update |
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