Sfoglia per Soggetto "chromosome deletion"

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7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case

Paspaliaris V., Vrachnis N., Iliodromiti Z., Antonakopoulos N., Papaioannou G., Vlachadis N., Anastasiadou F., Sotiriou S., Garas A., Thomaidis L., Manolakos E. (2017)

Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ...
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

Sarri, C.; Douzgou, S.; Gyftodimou, Y.; Tümer, Z.; Ravn, K.; Pasparaki, A.; Sarafidou, T.; Kontos, H.; Kokotas, H.; Karadima, G.; Grigoriadou, M.; Pandelia, E.; Theodorou, V.; Moschonas, N. K.; Petersen, M. B. (2011)

We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ...
The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5-azacytidine: Results from the Hellenic 5-azacytidine registry

Diamantopoulos P., Koumbi D., Kotsianidis I., Pappa V., Symeonidis A., Galanopoulos A., Zikos P., Papadaki H.A., Panayiotidis P., Dimou M., Hatzimichael E., Vassilopoulos G., Delimpasis S., Mparmparousi D., Papageorgiou S., Variami E., Kyrtsonis M.-C., Megalakaki A., Kotsopoulou M., Repousis P., Adamopoulos I., Kontopidou F., Christoulas D., Kourakli A., Tsokanas D., Konstantinos Papoutselis M., Kyriakakis G., Viniou N.-A., the Hellenic MDS study group (2019)

In patients with myelodysplastic syndrome (MDS), the prognostic significance of chromosome 17 abnormalities has not yet been fully elucidated, except for isochromosome 17q that has been characterized as an intermediate ...

Sfoglia per Soggetto "chromosome deletion"

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case ﻿

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes ﻿

The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5-azacytidine: Results from the Hellenic 5-azacytidine registry ﻿

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

The prognostic significance of chromosome 17 abnormalities in patients with myelodysplastic syndrome treated with 5-azacytidine: Results from the Hellenic 5-azacytidine registry