Zobrazeno 1 - 10
of 16
pro vyhledávání: '"15q11‐q13 interstitial duplication"'
Autor:
Núñez, I.A. Martín, Aparicio, M.E. Mansilla, Blanco, J. Nevado, Santiago, F. García, Martínez, B. Fernández, Valero, A.M. Rodrigo, Del Olmo, N. Cisneros Gutiérrez, Villalba, M. Bienvenido, Jurado, C.B. Wandosell, Cordon, A. Baldominos, Barallobre, A. Magai, López, B.V. Blas, Molina, M. Milano
Publikováno v:
In Clinica Chimica Acta June 2019 493 Supplement 1:S571-S571
Autor:
M. Milano Molina, I.A. Martín Núñez, A. Magai Barallobre, F.A. Garcia Santiago, N. Cisneros Gutiérrez Del Olmo, A. Baldominos Cordon, J. Nevado Blanco, C.B. Wandosell Jurado, M.E. Mansilla Aparicio, B. Fernández Martínez, M. Bienvenido Villalba, B.V. Blas López, A.M. Rodrigo Valero
Publikováno v:
Clinica Chimica Acta. 493:S571
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fab2507b551b359aabd08dbba96a78bc
https://doi.org/10.1016/j.cca.2019.03.1199
https://doi.org/10.1016/j.cca.2019.03.1199
Akademický článek
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Autor:
Chilakamarri, Lekha1 (AUTHOR), Mellin‐Sanchez, Estrella Lizbeth1 (AUTHOR) Lizbeth.mellin@utrgv.edu
Publikováno v:
Clinical Case Reports. May2022, Vol. 10 Issue 5, p1-7. 7p.
Publikováno v:
Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Our patient is the first to encompass the full spectrum of reported features related to tetrasomy of the Prader–Willi Angelman Critical Region. She has a complex chromosomal rearrangement including an interstitial triplication reported in
Externí odkaz:
https://doaj.org/article/4fd200d40e8e4cf5b4a89c44326d45af
Autor:
Carelle-Calmels, Nadège1, Girard-Lemaire, Françoise1, Guérin, Eric2, Bieth, Eric3, Rudolf, Gabrielle4, Biancalana, Valérie5, Pecheur, Hélène6, Demil, Houria6, Schneider, Thierry6, de Saint-Martin, Anne7, Caron, Olivier5, Legrain, Michèle2, Gaston, Valérie3, Flori, Elisabeth1 Elisabeth.Flori@chru-strasbourg.fr
Publikováno v:
European Journal of Medical Genetics. Nov2008, Vol. 51 Issue 6, p547-557. 11p.
Autor:
Bauer, Sarah C.1, Msall, Michael E.2
Publikováno v:
Developmental Disabilities Research Reviews. 2011, Vol. 17 Issue 1, p3-8. 6p. 2 Charts.
Autor:
Boyar, FZ, Whitney, MM, Lossie, AC, Gray, BA, Keller, KL, Stalker, HJ, Zori, RT, Geffken, G, Mutch, J, Edge, PJ, Voeller, KS, Williams, CA, Driscoll, DJ
Publikováno v:
Clinical Genetics; Dec2001, Vol. 60 Issue 6, p421-430, 10p
Autor:
Anne de Saint-Martin, Françoise Girard-Lemaire, Gabrielle Rudolf, Valérie Gaston, Eric Bieth, Elisabeth Flori, Eric Guérin, Houria Demil, Nadège Carelle-Calmels, Michèle Legrain, Valérie Biancalana, Olivier Caron, Thierry Schneider, Hélène Pecheur
Publikováno v:
European journal of medical genetics. 51(6)
Cytogenetically detectable elongation of the 15q proximal region can be associated with Prader–Willi/Angelman critical region interstitial duplications or with inherited juxtacentromeric euchromatic variants. The first category has been reported in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee69c9b8eb26a6fc587c319058dc79c
https://pubmed.ncbi.nlm.nih.gov/18692163
https://pubmed.ncbi.nlm.nih.gov/18692163
Autor:
AAP Section on Developmental and Behavioral Pediatrics, Robert G. Voigt, Michelle M. Macias, Scott M. Myers, Carl D Tapia
Fully revised and expanded, the second edition of this best-selling resource provides expert guidance for primary pediatric health care professionals on caring for children with developmental and behavioral concerns – from medical evaluation and ca
