Results 241 to 250 of about 164,447 (333)

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

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

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

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

Comparative cytogenetics of the <i>Physalaemus gracilis</i> group (Anura, Leptodactylidae) with characterization of the karyotype of <i>Physalaemus evangelistai</i> Bokermann, 1967. [PDF]

Comp Cytogenet
Mosquini PHP, Souza LHB, Ferro JM, Lourenço LB.   +3 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

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

Comparative Karyotyping of Five Marine Species of Genus Cypraea (Mesogastropoda: Prosobranchiata).

, 1999
Abdel-Basset M. Ebied, Hemely Hassan
openalex   +2 more sources

Exploring the synergy between telomere length and genomic complexity in CLL

British Journal of Haematology, EarlyView.
Silvia Ramos‐Campoy, Anna Puiggros, Joanna Kamaso, Helen Parker, Gian Matteo Rigolin, Claudia Haferlach, María José Larráyoz, Rosa Collado, Rocío Salgado, María José Calasanz, Laurence Etter, Alberto Valiente, Pau Abrisqueta, Francesc Bosch, Eva Gimeno, Antonio Cuneo, Florence Nguyen‐Khac, Jacqueline Schoumans, Jonathan C. Strefford, Blanca Espinet   +19 more
wiley   +1 more source