Results 91 to 100 of about 109,479 (290)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons [PDF]

, 2004
Background: Activation of proto-oncogenes by DNA amplification is an important mechanism in the development and maintenance of cancer cells. Until recently, identification of the targeted genes relied on labour intensive and time consuming positional ...
De Preter, Katleen, Pattyn, Filip, Berx, Geert, Strumane, Kristin, Menten, Björn, Van Roy, Frans, De Paepe, Anne, Speleman, Franki, Vandesompele, Jo   +8 more
core   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +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

Gene clusters reflecting macrodomain structure respond to nucleoid perturbations

, 2010
Focusing on the DNA-bridging nucleoid proteins Fis and H-NS, and integrating several independent experimental and bioinformatic data sources, we investigate the links between chromosomal spatial organization and global transcriptional regulation.
Alberts, Ashburner, Babu, Ball, Beloin, Berger, Bertin, Bianca Sclavi, Blot, Boccard, Bradley, Bruno Bassetti, Cabrera, Cabrera, Cases, Chilcott, Cho, Cho, Cook, Cunha, Cunha, Dame, Darling, Dillon, Dorman, Duan, Eisen, Esnault, Espéli, Espéli, Fang, Gama-Castro, Grainger, Hengen, Hengge, Janga, Jeong, Jin, Junier, Kahramanoglou, Kalir, Kalir, Kelly, Keseler, Ko, Korea, Krin, Képès, Képès, Lang, Liu, Luijsterburg, Marco Cosentino Lagomarsino, Marr, Mathelier, Mercier, Moulin, Muskhelishvili, Nielsen, Oberto, Ogasawara, Oshima, Pesavento, Peter, Postow, Prigent-Combaret, Prüss, Reyes-Lamothe, Rocha, Saldana, Serres, Smith, Sonnenschein, Soutourina, Soutourina, Soutourina, Travers, Valens, Vittore F. Scolari, Vora, Wade, Wang, Wang, Wang, Warren, Weber, Wiggins, Wright, Zechiedrich, Zimmerman   +89 more
core   +2 more sources

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo [PDF]

, 2007
We treated 10 children with X-linked SCID (SCID-X1) using gammaretrovirus-mediated gene transfer. Those with sufficient follow-up were found to have recovered substantial immunity in the absence of any serious adverse events up to 5 years after treatment.
Kerstin Schwarzwaelder, Steven J. Howe, Manfred Schmidt, Martijn H. Brugman, Annette Deichmann, Hanno Glimm, Sonja Schmidt, Claudia Prinz, Manuela Wissler, Douglas J.S. King, Fang Zhang, Kathryn L. Parsley, Kimberly C. Gilmour, Joanna Sinclair, Jinhua Bayford, Rachel Peraj, Karin Pike-Overzet, Frank J.T. Staal, Dick de Ridder, Christine Kinnon, Ulrich Abel, Gerard Wagemaker, H. Bobby Gaspar, Adrian J. Thrasher, Christof von Kalle, Cavazzana-Calvo, Gaspar, Hacein-Bey-Abina, Aiuti, Aiuti, Gaspar, Ott, Hacein-Bey-Abina, Li, Kustikova, Modlich, Montini, Mitchell, Schröder, Wu, Bushman, Schmidt, Schmidt, Hematti, Laufs, Suzuki, Bartholomew, Recchia, Calmels, Hoeben, Palmer, Xu, Dik, Ge   +53 more
core   +2 more sources

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery [PDF]

Ultrasound in Obstetrics & Gynecology, 2017
ABSTRACTObjectiveTo evaluate the association between aberrant right subclavian artery (ARSA), with or without additional risk factors for aneuploidy or ultrasound abnormality, and results of chromosomal microarray analysis (CMA).MethodsThis was a multicenter study of fetuses diagnosed with ARSA that underwent genetic analysis by CMA, all samples being ...
I, Maya, S, Kahana, J, Yeshaya, T, Tenne, S, Yacobson, I, Agmon-Fishman, L, Cohen-Vig, A, Levi, E, Reinstein, L, Basel-Vanagaite, R, Sharony   +10 more
openaire   +2 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

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

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

Risk Management and Healthcare Policy, 2021
Xiangqun Fan,1,* Hailong Huang,1,* Xiyao Lin,2 Huili Xue,1 Meiying Cai,1 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect ...
Fan X, Huang H, Lin X, Xue H, Cai M, Lin N, Xu L   +6 more
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