Results 141 to 150 of about 58,343 (309)

Incidence and clinical significance of sex chromosome losses in bone marrow of patients with hematologic diseases

, 2018
BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies.
정화순, 허정원
core   +1 more source

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, EarlyView.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley   +1 more source

Experiences of parents whose children were prenatally diagnosed with a chromosome abnormality

, 2003
The offering of prenatal diagnosis is becoming more readily available and is considered standard of care for mothers over the age of thirty-five. When a chromosome abnormality is discovered in a pregnancy parents have the option of terminating the ...
Faurot, Jina Louise
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

CHROMOSOME ABNORMALITIES IN TOXOPLASMOSIS

The Lancet, 1976
Milet, RenéG., Abt, Werner, Gallegos, Daniel   +2 more
openaire   +3 more sources

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality. [PDF]

Cancer Genomics Proteomics, 2019
Torkildsen S, Gorunova L, Heim S, Tjønnfjord GE, Spetalen S, Risberg B, Tran HTT, Panagopoulos I.   +7 more
europepmc   +1 more source

Detecció i incidència d'anomalies cromosòmiques en espermatozoides humans

, 2000
Consultable des del TDXTítol obtingut de la portada digitalitzadaLes tècniques d'hibridació in situ fluorescent aplicades sobre nuclis d'espermatozoides humans prèviament descondensats permeten la seva caracterització citogenètica i, en conseqüència ...
Blanco Rodríguez, Joan, Blanco, Joan
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Case Report Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

, 2020
We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of PallisterKillian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic
Marybeth Hummel, Amy L Shackelford, Laura K Conlin, Sharon L Wenger, Nancy B Spinner   +4 more
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