Results 121 to 130 of about 97,595 (299)

Incomplete trisomy 22

Human Genetics, 1981
A severely growth-retarded female newborn is described, who died a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at the 3th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal findings in the patient included a
openaire   +3 more sources

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Spontaneous hepatic tumor regression in an infant with trisomy 18

Pediatric Investigation, EarlyView.
Masashi Hotta, Katsuya Hirata, Shota Inoue, Kohei Higuchi, Eriko Nishi, Kazuko Wada   +5 more
wiley   +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

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

Mitotic antipairing of homologous and sex chromosomes via spatial restriction of two haploid sets. [PDF]

, 2018
Pairing homologous chromosomes is required for recombination. However, in nonmeiotic stages it can lead to detrimental consequences, such as allelic misregulation and genome instability, and is rare in human somatic cells.
Hua, Lisa L, Mikawa, Takashi
core   +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

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

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

First‐Line Treatment of IGHV‐Unmutated Chronic Lymphocytic Leukemia: A Network Meta‐Analysis of Targeted and Chemoimmunotherapy Regimens

European Journal of Haematology, EarlyView.
ABSTRACT Immunoglobulin heavy chain variable region‐unmutated (IGHV‐U) chronic lymphocytic leukemia (CLL) represents a biologically aggressive subgroup with limited responsiveness to chemoimmunotherapy (CIT). To clarify the comparative effectiveness of available frontline options, we conducted a comprehensive Bayesian network meta‐analysis of ...
Santino Caserta, Enrica Antonia Martino, Danilo Lofaro, Ernesto Vigna, Antonella Bruzzese, Francesco Mendicino, Maria Eugenia Alvaro, Caterina Labanca, Eugenio Lucia, Virginia Olivito, Nicola Amodio, Fortunato Morabito, Valter Gattei, Massimo Gentile   +13 more
wiley   +1 more source