Results 271 to 280 of about 3,163,010 (367)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Impact of high-sensitivity flow cytometry on peri-transplant minimal residual disease kinetics in acute leukemia. [PDF]

Sci Rep
de Azambuja AP, Beltrame MP, Malvezzi M, Schluga YC, Justus JLP, Lima ACM, Funke VAM, Bonfim C, Pasquini R.   +8 more
europepmc   +1 more source

PRIAPISM CAUSED BY ACUTE MYELOGENOUS LEUKEMIA (CASE REPORT)

, 1964
Shigeyoshi Namiki, Hiroshi Takahashi
openalex   +2 more sources

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Neurological manifestations in dogs with acute leukemia. [PDF]

Front Vet Sci
Lyseight FLS, Pittaway C, Dennis R, Cherubini GB.   +3 more
europepmc   +1 more source

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

SERS and Machine Learning-Enabled Liquid Biopsy: A Promising Tool for Early Detection and Recurrence Prediction in Acute Leukemia. [PDF]

ACS Omega
Oktem F, Akdeniz M, Al-Shaebi Z, Akyol G, Keklik M, Aydin O.   +5 more
europepmc   +1 more source

Heterotransplantation of human cell lines from Burkitt??s tumors and acute leukemia into newborn rats

, 1969
Bayard Clarkson, Adrienne Tanzi, R L Mackay, Vivian McComb   +3 more
openalex   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Efficacy of Low-Dose Fluconazole for Primary Prophylaxis of Invasive Candida Infections in Patients With Acute Leukemia: A Double-Blind Randomized Clinical Trial. [PDF]

Cancer Med
Savary-Kouzehkonan R, Sadeghi K, Rad S, Alijani N, Baseri Z, Vaezi M, Mousavi SA, Shahrami B.   +7 more
europepmc   +1 more source