Results 11 to 20 of about 4,681 (147)

Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting

Ultrasound in Obstetrics &Gynecology, Volume 60, Issue 4, Page 487-493, October 2022., 2022
ABSTRACT Objective To investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF). Methods This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 ...
E. Westenius, E. Sahlin, P. Conner, A. Lindstrand, E. Iwarsson   +4 more
wiley   +1 more source

New approaches to studying early brain development in Down syndrome

Developmental Medicine &Child Neurology, Volume 61, Issue 8, Page 867-879, August 2019., 2019
Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a complex condition which results in multiple lifelong health problems, including varying degrees of intellectual disability and delays in speech, memory, and learning. As both length and
Ana A Baburamani, Prachi A Patkee, Tomoki Arichi, Mary A Rutherford   +3 more
wiley   +1 more source

PB1716 CLINICAL AND GENETIC FEATURES AND PROGNOSIS ANALYSIS OF PATIENTS WITH RECURRENT GENETIC ABNORMALITY T(12;22) (P13;Q12)

HemaSphere, Volume 3, Issue S1, Page 789-790, June 2019., 2019
Background: Cytogenetic abnormality is an important basis for prognostic stratification of acute leukemia. Chromosome translocation t(12;22)(p13;q12) and MN1‐ETV6/ETV6‐MN1 fusion was reported to be a recurrent genetic abnormality in acute myeloid leukemia (AML) / myelodysplastic syndrome (MDS) but only found in 12 cases to date.
T. Wang, X. Ma, S. Hui, J. Ni, Y. Yin, W. Cao, Y. Zhang, X. Wang, X. Chen, H. Liu   +9 more
wiley   +1 more source

PB1717 RELAPSES OF CHILDHOOD MYELOID LEUKEMIA, A CASE SERIES

HemaSphere, Volume 3, Issue S1, Page 790, June 2019., 2019
Background: Despite significant progress in treating paediatric acute myeloid leukaemia (AML), relapse rates still range between 30% and 40%, with overall survival rates commonly below 70%. Aims: The aim of this study is the identification of all relevant characteristics and outcomes in a group of patients with childhood AML who relapsed after initial ...
M. Nikita, M. Servitzoglou, A. Pourtsidis, D. Doganis, K. Kapetaniou, S. Papachristidou, E. Magkou, T. Anastasiou, M. Baka   +8 more
wiley   +1 more source

PB1718 FLT3 TESTING IN RELAPSED ACUTE MYELOID LEUKEMIA SETTING IS BECOMING INCREASINGLY COMMON, BUT LABORATORY TURNAROUND TIMES (TAT) MAY BE A BARRIER TO TREATMENT WITH SECOND GENERATION FLT3 INHIBITORS.

HemaSphere, Volume 3, Issue S1, Page 790-791, June 2019., 2019
Background: The treatment landscape in AML has developed at an astonishing pace in the last 3 years, with >5 therapies being approved by the FDA. FLT3 inhibitors gilteritinib (Gil) and quizartinib (Quiz) present an unprecedented opportunity for improved survival in relapse and refractory AML.
E. Golebiewska, D.M. Keeling, J. Parker, M. Fillion, J. Clark   +4 more
wiley   +1 more source

Flow Cytometric DNA Index and Karyotype in Childhood Lymphoblastic Leukemia

Analytical Cellular Pathology, Volume 17, Issue 3, Page 145-156, 1998., 1998
Flow cytometric DNA‐index (DIFCM) and karyotype were analysed in 82 consecutive children with acute lymphoblastic leukemia (ALL) during a 10 year period. A statistically significant correlation existed between modal chromosome number and DIFCM (p = 0.009).
Erik Forestier, Gösta Holmgren, Göran Roos   +2 more
wiley   +1 more source

Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT

Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 4, Page 470-479, October 2024.
ABSTRACT Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed
K. Gadsbøll, I. Vogel, S. E. Kristensen, L. H. Pedersen, J. Hyett, O. B. Petersen, The Danish Cytogenetic Central Register study group   +6 more
wiley   +1 more source

Perfil de desarrollo evolutivo de un bebé con una cromosomopatía infrecuente en nacidos vivos [PDF]

, 2014
La trisomía 22 en nacidos vivos se clasifica dentro de las denominadas enfermedades raras o poco frecuentes. Se evalúa el perfil evolutivo de dos niñas (trisomía 22 y trisomía 21), antes y después de la aplicación de un tratamiento de atención temprana.
Robles Bello, María Auxiliadora, Romero Prado, Ana Belén, Sánchez Teruel, David   +2 more
core  

Rendimiento operativo de la tamizacion doble ajustada por raza para la deteccion de aneuploidias en poblacion colombiana [PDF]

, 2011
Actualmente, los algoritmos utilizados para la detección de alteraciones cromosómicas se han basado en los resultados obtenidos de poblaciones caucásicas, afrocaribeñas y asiáticas, las cuales, no tienen las mismas características de la raza mestiza ...
Guzman, Claudia, Orjuela, Jorge, Rebolledo, Mario, Rivera Moreno, Eliana Patricia, Valencia, Catalina   +4 more
core  

Etiopatogenia del retraso mental. [PDF]

, 1993
Sin ...
Heras, F.J. de las
core   +1 more source