Results 61 to 70 of about 43,064 (280)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Clinical impact of breakpoint position within M-bcr in chronic myeloid leukemia

, 1993
We have analyzed the M-bcr breakpoint position in 133 Philadelphia-positive chronic myeloid leukemia patients and correlated the findings with clinical, hematologic, and cytogenetic data.
Malm, C, Åman, P, Fioretos, Thoas, Nilsson, Per-Gunnar, Heim, Sverre, Simonsson, B, Turesson, Ingemar, Kristoffersson, Ulf, Mitelman, Felix   +8 more
core   +1 more source

Determination of pharmacokinetic-pharmacodynamic cutoff values of oxytetracycline in calves and adult cattle using population pharmacokinetic modeling

Frontiers in Microbiology
IntroductionA harmonized clinical breakpoint for interpreting antimicrobial susceptibility testing of oxytetracycline in cattle is currently lacking in Europe.
Esther A. Winter, Ludovic Pelligand, Ludovic Pelligand, Pierre-Louis Toutain, Pierre-Louis Toutain, Peter Lees, Aneliya Milanova, Ronette Gehring   +7 more
doaj   +1 more source

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

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes [PDF]

, 2017
Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a ''Systematic Survey of Balanced ...
Pöyhönen, Minna, Mana M. Mehrjouy, Anna-Kaisa Anttonen, Mehrjouy, Mana M., Tommerup, Niels, Lars Paulin, Aarno Palotie, Niels Tommerup, Lahermo, Päivi, Paulin, Lars, Anttonen, Anna-Kaisa, Teppo Varilo, Palotie, Aarno, Varilo, Teppo, Ellonen, Pekka, Tiia Maria Luukkonen, Luukkonen, Tiia Maria, Päivi Lahermo, Mehrjouy, Mana M, Pekka Ellonen, Minna Pöyhönen   +20 more
core   +1 more source

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome [PDF]

The American Journal of Human Genetics, 2003
Monosomy 1p36 is the most common terminal deletion syndrome. This contiguous gene deletion syndrome is presumably caused by haploinsufficiency of a number of genes. We have constructed a contig of overlapping large-insert clones for the most distal 10.5 Mb of 1p36, evaluated the deletion sizes in 61 subjects with monosomy 1p36 from 60 families, and ...
Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.   +8 more
openaire   +2 more sources

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

A Balanced Reciprocal Translocation t(5;7)(q14;q32) Associated With Autistic Disorder: Molecular Analysis of the Chromosome 7 Breakpoint

, 2001
International audienceAutism is a neuropsychiatric disorder characterized by impairments in social interaction, restricted and stereotypic pattern of interest with onset by 3 years of age. The results of genetic linkage studied for autistic disorder (AD)
Betancur, Catalina, Green, Eric, Green, Eric D., Gillberg, Christopher, Carlsson, Birgit, Orsmark, Christina, Tentler, Dmitry,, Carlsson, Birgit,, Brandberg, Göran, Dahl, Niklas, Dahl, Niklas,, Annerén, Göran, Annerén, Göran,, Tentler, Dmitry   +13 more
core   +2 more sources

The EUCAST/VETCAST approach to breakpoint and determination

, 2018
International audienceVetCAST is the EUCAST (European Committee on Antimicrobial Susceptibility Testing) subcommittee for veterinary Antimicrobial Susceptibility Testing (AST).
Toutain, Pierre-Louis, Mevius, Dik, Bousquet‐mélou, Alain, Ferran, Aude, Damborg, Peter, Pelligand, Ludovic   +5 more
core   +2 more sources

Interspecies Biofilm Dynamics Among Staphylococci: Inflammatory Contributions to Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew, Mahnaz Ramezanpour, Clare M. Cooksley, Sholeh Feizi, Muhammed Awad, Kevin Aaron Fenix, Peter‐John Wormald, Alkis J. Psaltis, Sarah Vreugde   +8 more
wiley   +1 more source