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1.
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
PLoS Genet;
10(5): e1004340, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24784881
2.
Genetic differences between paediatric and adult Burkitt lymphomas.
Br J Haematol;
173(1): 137-44, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26887776
3.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn;
36(6): 523-9, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27018091
4.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet;
51(1): 21-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24133203
5.
14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.
Genes Chromosomes Cancer;
53(8): 657-66, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24729385
6.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A;
164A(12): 3027-34, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25258245
7.
Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
Am J Hematol;
94(11): E285-E288, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31379011
8.
Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement.
Genes Chromosomes Cancer;
52(1): 81-92, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23012230
9.
Dismal prognostic value of monosomal karyotype in elderly patients with acute myeloid leukemia: a GOELAMS study of 186 patients with unfavorable cytogenetic abnormalities.
Blood;
118(3): 679-85, 2011 Jul 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-21622650
10.
Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia.
Haematologica;
98(4): 649-54, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23065509
11.
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
Am J Med Genet A;
161A(7): 1594-8, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23704076
12.
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
Hum Mutat;
33(2): 355-8, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22124977
13.
PRDM16 (1p36) translocations define a distinct entity of myeloid malignancies with poor prognosis but may also occur in lymphoid malignancies.
Br J Haematol;
156(1): 76-88, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22050763
14.
Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.
Blood;
115(15): 3089-97, 2010 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20160164
15.
Alpha-interferon secreting blastic plasmacytoid dendritic cells neoplasm: a case report with histological, molecular genetics and long-term tumor cells culture studies.
Am J Dermatopathol;
34(6): 626-31, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22534638
16.
Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Cote d'Or (Burgundy, France).
Haematologica;
96(1): 55-61, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20971817
17.
Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations.
Genes Chromosomes Cancer;
49(10): 919-27, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20629097
18.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Hum Mutat;
30(2): E320-9, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19023858
19.
Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.
Am J Med Genet A;
149A(7): 1504-10, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19533778
20.
Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.
Am J Med Genet A;
146A(20): 2651-6, 2008 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18798330