Results 231 to 240 of about 2,310,607 (369)

Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del(17p), t(4;14), gain 1q, hyperdiploidy, and tumor load.

Journal of Clinical Oncology, 2013
K. Neben, A. Jauch, T. Hielscher, J. Hillengass, N. Lehners, A. Seckinger, M. Granzow, M. Raab, A. Ho, H. Goldschmidt, D. Hose   +10 more
semanticscholar   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Fetal umbilical-portal-systemic venous shunt diagnosed by prenatal ultrasonography and its association with chromosomal abnormalities. [PDF]

Quant Imaging Med Surg
Li C, Song X, Ge T, Zhang C, Wang X, Qi J, Du X, Hao Y, Jia P, Wang Y, Lin X.   +10 more
europepmc   +1 more source

Supplementary Figure S2 from Relationship of Gene Expression and Chromosomal Abnormalities in Colorectal Cancer

, 2023
Dafna Tsafrir, Manny D. Bacolod, Zachariah Selvanayagam, Ilan Tsafrir, Jinru Shia, Zhaoshi Zeng, Hao Liu, Curtis Krier, Robert F. Stengel, Francis Barany, William L. Gerald, Philip B. Paty, Eytan Domany, Daniel A. Notterman   +13 more
openalex   +1 more source

Chromosomal abnormalities are major prognostic factors in elderly patients with multiple myeloma: the intergroupe francophone du myélome experience.

Journal of Clinical Oncology, 2013
H. Avet-Loiseau, C. Hulin, L. Campion, P. Rodon, G. Marit, M. Attal, B. Royer, M. Dib, L. Voillat, D. Bouscary, D. Caillot, M. Wetterwald, B. Pégourié, G. Lepeu, B. Corront, L. Karlin, A. Stoppa, J. Fuzibet, X. Delbrel, F. Guilhot, B. Kolb, O. Decaux, T. Lamy, L. Garderet, O. Allangba, F. Lifermann, B. Anglaret, P. Moreau, J. Harousseau, T. Facon   +29 more
semanticscholar   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases. [PDF]

Front Mol Biosci
Qi H, Chen H, Zhang Z, Gan J, Liu H, Yuan X, Luo F, Chen J, Shen S.   +8 more
europepmc   +1 more source

A comparative study of dual marker test vs ultrasonography markers for detection of chromosomal abnormalities in patients attending a tertiary care center

Global Journal of Medicine and Public Health
Background It becomes important to detect chromosomal abnormalities prenatally and early in the pregnancy. The present thesis is aimed to assess the performance of prenatal screening tests for chromosomal abnormalities detection i.e., dual ...
S. Sailaja, Bindu Reddy Pamulapati,
doaj  

Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities

, 2010
Adam C. Naj, Gary W. Beecham, Eden R. Martin, Paul J. Gallins, Eric Powell, Ioanna Konidari, Patrice L. Whitehead, Guiqing Cai, Vahram Haroutunian, William K. Scott, Jeffery M. Vance, Michael A. Slifer, Harry E. Gwirtsman, John R. Gilbert, Jonathan L. Haines, Joseph D. Buxbaum, Margaret A. Pericak‐Vance   +16 more
openalex   +2 more sources

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source