Results 121 to 130 of about 81,827 (263)

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

A trissomia 21 na perspetiva do farmacêutico [PDF]

, 2015
Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasA trissomia 21 é uma doença genética com uma expressão importante em Portugal.
Braz, Inês Maria das Neves
core  

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Morphological and biochemical changes in trisomy 21 [PDF]

, 2015
Introdução: A Trissomia 21 (T21) é a aneuploidia mais comum, apresentando uma prevalência de 1/670 nascimentos. É a principal causa de défice intelectual moderado a grave, e está associada a diversas anomalias congénitas, sendo as malformações ...
Azevedo, S., Cunha, A., Lebre, A., Lima, L., Reis, A., Valente, E.   +5 more
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Large-scale Oscillation of Structure-Related DNA Sequence Features in Human Chromosome 21

, 2006
Human chromosome 21 is the only chromosome in human genome that exhibits oscillation of (G+C)-content of cycle length of hundreds kilobases (500 kb near the right telomere). We aim at establishing the existence of similar periodicity in structure-related
A. Panjkovich, C. R. Calladine, G. Bernardi, H. C. M. Nelson, H. DeVoe, I. Liebich, J. Filipski, J. Widom, K. Matsuo, Pedro Miramontes, S. Tiwari, T. Cremer, V. R. Chechetkin, V. R. Chechetkin, Wentian Li   +14 more
core   +1 more source

Transition Into Clinical Routine and Survival Outcomes of BCL2‐ and BTK Inhibitors: An Analysis of Patient Data From the GCLLSG Registry

European Journal of Haematology, EarlyView.
ABSTRACT Within a dataset of the German CLL Study Group (GCLLSG) registry, 274 patients were allocated to a cohort with venetoclax and 888 to a cohort with BTKi (79 acalabrutinib, 809 ibrutinib), each as first administered targeted substance class within the documented treatment sequence.
Nadine Kutsch, Rudy Ligtvoet, Sandra Robrecht, Hartmut Linde, Thomas Illmer, Steffen Dörfel, Jörg Lipke, Ali Aldaoud, Rudolf Schlag, Jolanta Dengler, Othman Al‐Sawaf, Petra Langerbeins, Paula Cramer, Michael Hallek, Barbara Eichhorst, Kirsten Fischer, Anna Fink   +16 more
wiley   +1 more source

Non-disjunction of chromosome 13 [PDF]

, 2017
We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with ...
Bak, Mads, Brandt, Carsten A., Bruun-Petersen, Gert, Bugge, Merete, Collins, Andrew, deLozier, Celia D., Duprez, Laurence, Eiberg, Hans, Hahnemann, Johanne M.D., Hansen, Claus, Hertz, Jens Michael, Lespinasse, James, Lundsteen, Claes, Petersen, Michael B., Rasmussen, Kirsten, Tommerup, Niels, Tranebjaerg, Lisbeth   +16 more
core  

Bone Marrow Pathology in Cold Agglutinin‐Mediated Autoimmune Hemolytic Anemia: A Study of 56 Cases

European Journal of Haematology, EarlyView.
ABSTRACT Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia (AIHA). CAD occurs in the context of a small clonal B‐cell lymphoproliferation restricted to blood and/or bone marrow (BM), without overt or extramedullary lymphoma. The WHO‐HAEM5 introduced a description of the CAD‐associated lymphoproliferative disorder (CAD‐LPD) in ...
Anne‐Marie L. Becking, Sophie J. Bernelot Moens, Marie José Kersten, Femke V. M. Mulder, Steven T. Pals, Lianne Koens, Josephine M. I. Vos   +6 more
wiley   +1 more source

Significance of Myelodysplasia‐Related Mutations and the Genetic Landscape of Acute Leukemias of Ambiguous Lineage

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT The recent fifth edition WHO classification and ICC classification systems have moved further toward genetically defined classifications of acute leukemias. Both now recognize myelodysplasia‐related (MR) mutations as defining of MDS‐related AML (AML‐MR).
Timothy J. Kirtek, Olga K. Weinberg
wiley   +1 more source