Results 111 to 120 of about 105,581 (338)

Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)

, 2021
Odalis Molina-Gamboa, Anduriña Barrios-Martínez, Alina García-García, Luanda Maceira, Luis A. Méndez‐Rosado   +4 more
openalex   +2 more sources

Analysis of cell‐free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population – a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, 2017
E. Iwarsson, B. Jacobsson, J. Dagerhamn, T. Davidson, E. Bernabé, M. Heibert Arnlind   +5 more
semanticscholar   +1 more source

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

Additional file 3: of NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

, 2018
Lennart Johansson, Hendrik Weerd, Eddy N. de Boer, Freerk van Dijk, Gerard Meerman, Rolf H. Sijmons, Birgit Sikkema‐Raddatz, Morris Swertz   +7 more
openalex   +1 more source

Analysis of trisomy 21 risk in early prenatal screening

, 2020
Е.С. Зайцева, Т. П. Жукова, С Ю Ратникова, И. Л. Артемичева   +3 more
openalex   +1 more source

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

Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome

, 2016
Chih‐Ping Chen, Tsang‐Ming Ko, Schu‐Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Lifeng Chen, Chien-Wen Yang, Wayseen Wang   +8 more
openalex   +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

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP Registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension)

Pulmonary Circulation
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21.
Tilman Humpl, Rolf M. F. Berger, Damien Bonnet, Maurice Beghetti, Dunbar Ivy, For the TOPP Investigators   +5 more
doaj   +1 more source