Results 171 to 180 of about 2,581,325 (340)

Integrated genomic and clinical indicators for predicting foetal chromosomal abnormalities: development and validation of a nomogram model. [PDF]

J Glob Health
Zhou Y, Liu P, Zhang X, Geng Q, Jia H, Wang Z, Zhou X, Li H, Zhang J, Liu C, Liu X, Kang W.   +11 more
europepmc   +1 more source

Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

Ultrasound in Obstetrics and Gynecology, 2015
S. Liu, L. Song, D. Cram, L. Xiong, K. Wang, R. Wu, J. Liu, K. Deng, B. Jia, Mei Zhong, F. Yang   +10 more
semanticscholar   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities. [PDF]

Front Genet
Kim JC, Kim H, Jang H, Go M, Park JE, Ryu CS, Chin MU, Kim EH, Lee YJ, Shim SH, Cha DH.   +10 more
europepmc   +1 more source

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

Chromosomal Abnormalities in Recurrent Pregnancy Loss at a Tertiary Care Center. [PDF]

Cureus
Sinha MB, Thakur P, Verma R.
europepmc   +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

Multiple myeloma in the real world settings: prognostic significance of 1q21 chromosomal abnormalities - single center experience. [PDF]

Front Oncol
Sretenovic A, Mitrovic M, Bukumiric Z, Vukosavljevic N, Kecman N, Jovanovic J, Fekete MD, Zaric E, Bila J.   +8 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Chromosomal abnormalities of mesenchymal stromal cells in hematological malignancies. [PDF]

Oncogene
Lisboa MO, Borgonovo T, Fracaro L, Rangel Pozzo A, Brofman PRS, Mai S.   +5 more
europepmc   +1 more source