Results 221 to 230 of about 124,374 (336)

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

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

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

Genetic and clinical features of microcephaly in a prenatal cohort. [PDF]

BMC Pregnancy Childbirth
Zhang Y, Liu H, Yin A, Jiang X, Tang L, Liu S, Qin X, Zhong M, Huang C, Jia B.   +9 more
europepmc   +1 more source

Variation in the electrophoretic karyotype of Brazilian strains of Metarhizium anisopliae

, 1998
Valadares-Inglis Maria Cléria, Peberdy John F.   +1 more
openalex   +1 more source

Real‐world experience with CPX‐351 for secondary acute myeloid leukaemia: Comparison with FLAG‐IDA in a propensity score matching analysis

British Journal of Haematology, EarlyView.
Maria Agustina Perusini, Ana Flavia Patiño, Claire Andrews, Sarit E. Assouline, Joseph M. Brandwein, Signy Chow, Gizelle Popradi, David Sanford, Lynn Savoie, Lalit Saini, Bambace Nadia, Dina Khalaf, Andre C. Schuh, Karen Yee, Vikas Gupta, Dawn Maze, Steven M. Chan, Aaron D. Schimmer, Waleed Sabry, Hassan Sibai   +19 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

Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses. [PDF]

Arch Med Sci
Sun S, Liu C, Lan X, Tang Y.
europepmc   +1 more source

CHROMOSOME NUMBERS AND KARYOTYPES OF SOME AUSTRALIAN STIGMODERINI COLEOPTERA BUPRESTIDAE

, 1988
Jim Gardner
openalex   +2 more sources

Safety and effectiveness of the combination of 5‐azacitidine and ruxolitinib in VEXAS syndrome: A single‐centre experience

British Journal of Haematology, EarlyView.
Gregorio Maria Bergonzi, Enrico Cozzo, Alessandro Tomelleri, Costanza Piccolo, Gianluca Scorpio, Carmelo Gurnari, Francesca Romano, Marco Matucci‐Cerinic, Lorenzo Dagna, Massimo Bernardi, Luca Vago, Fabio Ciceri, Corrado Campochiaro, Elisa Diral   +13 more
wiley   +1 more source