Results 271 to 280 of about 162,657 (334)

Chromosomes and Karyotype of the Indian Pangolin, Manis crassicaudata Gray(Pholidota-Mammalia).

, 2000
N. V. Aswathanarayana
openalex   +2 more sources

Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies. [PDF]

Front Med (Lausanne)
Yin J, Zhang X, Wang Q, Cao Q, Ou H, Zhao Z, Xu S, Wang J, Xia L, Zhang B, Xiao X, Luo T, Wang X.   +12 more
europepmc   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Epidemiology and characteristics of validated mixed phenotype acute leukaemia—A comprehensive nationwide Danish cohort study

British Journal of Haematology, EarlyView.
Lisa‐Maj Christensen, Daniel Tuyet Kristensen, Karen Dybkær, Kirsten Grønbæk, Tarec Christoffer El‐Galaly, Marianne Schmidt Ettrup, Jonas Faartoft Jensen, Hans Beier Ommen, Anne Louise Tølbøll Sørensen, Dennis Lund Hansen, Rasmus Froberg Brøndum, Marianne Tang Severinsen   +11 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Matching‐adjusted indirect comparisons of efficacy and safety for zanubrutinib versus the combination of fixed‐duration venetoclax and ibrutinib in patients with treatment‐naïve chronic lymphocytic leukaemia

British Journal of Haematology, EarlyView.
Talha Munir, Leyla Mohseninejad, Pal Rakonczai, Balazs Dobi, Sheng Xu, Keri Yang, Remus Vezan, Nicolás Martinez Calle   +7 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Venetoclax plus hypomethylating agents as effective bridge therapy to allogeneic stem cell transplant in relapsed/refractory acute myeloid leukaemia: A subanalysis of the AVALON study

British Journal of Haematology, EarlyView.
Elisabetta Petracci, Francesca Pavesi, Luca Castagna, Patrizia Zappasodi, Cristina Papayannidis, Calogero Vetro, Vincenzo Federico, Alessandro Cignetti, Erika Borlenghi, Nicola Fracchiolla, Luca Facchini, Luca Maurillo, Ernesta Audisio, Massimo Bernardi, Felicetto Ferrara, Francesco Lanza, Carmine Selleri, Ilenia Manfra, Claudio Cerchione, Jacopo Nanni, Andrea Davide Romagnoli, Giovanni Marconi, Chiara Zingaretti, Ivana Lotesoriere, Federica Gigli, Giovanni Martinelli, Elisabetta Todisco   +26 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source