Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Greig Syndrome"'
Publikováno v:
The Application of Clinical Genetics, Vol Volume 14, Pp 87-88 (2021)
Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Appl Clin Genet. 2008;1:19–22.The Editor-in-Chief and Publisher of The Application of Clinical Genetics wish to issue an Expression of Concern for the above published article.The original artic
Externí odkaz:
https://doaj.org/article/3727cb2b8d4c4f88a0c7b4a87f47d864
Autor:
Hassiba Bouktit, C. Méni, Marine Madrange, Elisa Bayard, Laurent Frenzel, Michel Arock, Olivier Hermine, Christine Bodemer, Leila Maouche-Chretien, Sylvie Fraitag, Ulrich Rüther, Margot Tissandier, Laura Polivka, Anne-Florence Collange, Julien Rossignol, Mélanie Parisot, Christina Gougoula, Rachel Rignault, Smail Hadj-Rabia, Julie Bruneau, Brigitte Bader-Meunier, Nicolas Cagnard, Cristina Bulai Livideanu, Veronique Parietti, Erinn Soucie, Camille Laurent, Ludovic Lhermitte, Patrice Dubreuil, Danielle Canioni, Mélanie Féroul
Publikováno v:
Blood. 138:2396-2407
Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MCs) in 1 or several organs. Although a somatic KIT D816V mutation is detected in ∼85% of patients, attempts to demonstrate its oncogenic effect alone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9922074dc8ce946b16b403d7ed624f46
https://doi.org/10.1182/blood.2020010207
https://doi.org/10.1182/blood.2020010207
Autor:
I. Manchón Trives, L. Alcaraz Más, V. Botella López, M.R. García Martínez, D. Montoro Cremades, F. Galán Sánchez
Publikováno v:
Anales de Pediatría, Vol 74, Iss 4, Pp 266-269 (2011)
Resumen: La cefalopolisindactilia de Greig es un síndrome autosómico dominante de baja prevalencia causado por mutaciones en el gen GLI3, localizado en 7p14.1 y caracterizado por la tríada clínica de polisindactilia, macrocefalia e hipertelorismo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb85e79fa98ae978473e6efcc2b46824
http://www.sciencedirect.com/science/article/pii/S1695403310005539
http://www.sciencedirect.com/science/article/pii/S1695403310005539
Autor:
AA Pushkov, L.S. Namazova-Baranova, Natalya Zhurkova, ND Vashkamadze, TA Polunina, Kirill Savostyanov
Publikováno v:
Posters.
Background and aims Last five years more than 50 novel microdeletion and microduplication syndromes were described. Sometimes we find rare chromosome anomalies, which clinical significance is not always known. Our aim was to describe the new phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b29bf24d1397dda43469ca4b76a7d804
https://doi.org/10.1136/archdischild-2017-313273.167
https://doi.org/10.1136/archdischild-2017-313273.167
Publikováno v:
The Application of Clinical Genetics
The Application of Clinical Genetics, Vol 2008, Iss default, Pp 19-22 (2008)
The Application of Clinical Genetics, Vol 2008, Iss default, Pp 19-22 (2008)
Solveig Schulz1, Marianne Volleth1, Petra Muschke1, Ilse Wieland1, Peter Wieacker1,21Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany; 2Institute of Human Genetics, Westfalian Wilhelms University Münster, GermanyAbstract:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411683a801e1043089ff35962fee78c9
https://doi.org/10.2147/tacg.s4401
https://doi.org/10.2147/tacg.s4401
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Clinical Genetics. 24:257-265
Three families with Greig cephalopolysyndactyly are reported, the relationship with pre-axial polydactyly type IV and the acrocallosal syndrome is discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467542a0ab4c73b37edcbd494ca5665b
https://doi.org/10.1111/j.1399-0004.1983.tb00080.x
https://doi.org/10.1111/j.1399-0004.1983.tb00080.x
Autor:
Lewis B. Holmes, D Hootnick
Publikováno v:
Clinical Genetics. 3:128-134
We have studied a boy and his father with polysyndactyly, hypertelorism, broad nose and scaphocephaly. Their features are similar to three previously described families and together constitute an autosomal dominant dysmorphic syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1dfa61a2371fd2459eb8103df4f14f
https://doi.org/10.1111/j.1399-0004.1972.tb01734.x
https://doi.org/10.1111/j.1399-0004.1972.tb01734.x
Autor:
Antonio Gonzalez-Meneses, Koen Devriendt, Thomy deRavel, Karl-Heinz Grzeschik, Luc De Smet, Jean-Pierre Fryns, Philippe Debeer
Publikováno v:
Journal of Children's Orthopaedics. 1:143-150
Purpose Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by a distinct combination of craniofacial, hand and foot malformations. The hand and foot malformations often require orthopedic assessment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2131917fb7cb8898c7a0cd45c3e2ae
https://doi.org/10.1007/s11832-007-0022-8
https://doi.org/10.1007/s11832-007-0022-8