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Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Acta Haematol
October 2023
Hematology Division, Department of Oncology, Lausanne University Hospital, Lausanne, Switzerland.
The gene encoding for transcription factor ETV6 presents recurrent lesions in hematologic neoplasms, most notably the ETV6-RUNX1 rearrangement in childhood B-ALL. The role of ETV6 for normal hematopoiesis is unknown, but loss of its function probably participates in oncogenic procedures. In myeloid neoplasms, ETV6-locus (12p13) deletions are rare but recurrent; ETV6 translocations are even rarer, but those reported seem to have phenotype-defining consequences.
View Article and Find Full Text PDF[Holoprosencephaly: foetopathologic study of 15 cases].
Tunis Med
September 2008
Service d'anatomie pathologique, hôpital Farhat Hached Sousse.
Background: Holoprosencephaly (HPE) is a rare and serious brain anomaly of heterogeneous aetiology.
Aims: description of neuropathologic patterns of HPE to eventually integrate it into recognized syndrome
Methods: The authors report 15 cases of HPE, examined at the department of pathology of Sousse (Tunisia) over a period of 11 years.
Results: The average age of mothers was 32 years and 46% of them were primigestes.
[Kabuki make-up syndrome. A report of 18 Spanish cases].
Rev Neurol
September 2005
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.
Aim: To present 18 cases of Kabuki make-up syndrome with the associated morphological and neurological alterations.
Case Reports: The series consists of 18 patients, 14 males and 4 females, who show the peculiar facial morphology of this disease. Ten cases were studied between 1968 and 1978, before the description of the syndrome.
[From "monocolor" karyotype to "multicolor" karyotype: applications of M-Fish in hematology and oncology].
Bull Cancer
February 2002
Service de cytogénétique médicale, Faculté de Médecine, BP 38, 63001 Clermont-Ferrand Cedex, France.
Since the establishment of human karyotype in 1956, human cytogenetic has quickly progressed. The description of the Philadelphia chromosome in 1960 led up to new applications of cytogenetic in the fields of hematology and oncology. The initial techniques allowed only uniform staining of chromosomes, limiting the detection of most structural rearrangements.
View Article and Find Full Text PDF[Swyer syndrome. Apropos of a new case of pure gonadal dysgenesis with Karyotype 46 XY].
J Gynecol Obstet Biol Reprod (Paris)
August 1984
The authors describe a case they have personally seen of pure gonadal dysgenesis with caryotype 46 XY (Swyers' syndrome) in which they found absence of HY antigen. They analysed the descriptions in the literature about this syndrome and show how this antigen is responsible for testicular differentiation. They show the place this syndrome has in the group of syndromes of bands and once again draw attention that there is a great risk of gonadoblastoma development when the Y chromosome is present and especially when the HY antigen is present.
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