Detection of hemophilia carriers during pregnancy

Autor: MJ Mahoney, CA Carta, Leon W. Hoyer

Publikováno v: Blood. 60:1407-1410

The accuracy of hemophilia A carrier detection during pregnancy has been determined using combined measurement of VIII:CAg and VIIIR:Ag. These immunoassays detect determinants that are sufficiently stable in plasma that the assays could be done on fr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21fd568824622af66f2516fda3a4c13a
https://doi.org/10.1182/blood.v60.6.1407.1407

The distribution of triatomine (Hemiptera: Reduviidae) vectors of Trypanosoma cruzi (Kinetoplastida: Trypanosomatidae) in Illinois and Missouri: historical records and specimen submissions from community science programs.

Autor: Santos EM; Department of Applied Health, Southern Illinois University Edwardsville, Edwardsville, IL, USA., Santanello CD; Department of Pharmaceutical Sciences, Southern Illinois University Edwardsville, Edwardsville, IL, USA., Curtis-Robles R; School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, USA., Killets K; School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, USA., Lawrence G; Entomology Branch, Division of Parasitic Diseases and Malaria, Centers for Disease Control and Prevention, Atlanta, GA, USA., Sevenshadows J; Illinois State Museum Research and Collections Center, Springfield, IL, USA., Mahoney MJ; Illinois State Museum Research and Collections Center, Springfield, IL, USA., Baker M; Missouri Department of Health and Senior Services, Jefferson City, MO, USA., Hamer SA; School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, USA.

Publikováno v: Journal of medical entomology [J Med Entomol] 2024 Nov 14; Vol. 61 (6), pp. 1273-1281.

Chronic Crusted Plaque after Skin Injury.

Autor: Mahoney MJ; Department of Pediatrics, University of Minnesota, Minneapolis, MN. Electronic address: Mahon491@umn.edu., Gaddis KJ; Department of Dermatology, University of Minnesota, Minneapolis, MN., Polcari IC; Department of Pediatrics, University of Minnesota, Minneapolis, MN; Division of Pediatric Dermatology, Department of Dermatology, University of Minnesota, Minneapolis, MN.

Publikováno v: The Journal of pediatrics [J Pediatr] 2024 Jan; Vol. 264, pp. 113771. Date of Electronic Publication: 2023 Oct 12.

A 16-year-old female with a bullous rash.

Autor: Mahoney MJ; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Polcari IC; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Department of Dermatology, Division of Pediatric Dermatology, University of Minnesota, Minnapolis, MN, USA.

Publikováno v: Paediatrics & child health [Paediatr Child Health] 2023 Apr 27; Vol. 28 (6), pp. 333-335. Date of Electronic Publication: 2023 Apr 27 (Print Publication: 2023).

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Autor: Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Azizi AA; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Bellus G; Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado School of Medicine, Aurora, Colorado, USA., Bird LM; Department of Pediatrics, University of California San Diego; Division of Genetics/Dysmorphology, Rady Children's Hospital, San Diego, California, USA., Blazo MA; Baylor Scott and White Hospital, Temple, Texas, USA., Burke LW; Clinical Genetics Program, University of Vermont Medical Center, Burlington, Vermont, USA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Collins F; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., DeFilippo C; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, California, USA., Denayer E; Department of Human Genetics, KU Leuven-University of Leuven, Leuven, Belgium., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's, IRCCS, Rome, Italy., Dills SK; Carolinas Medical Center, Charlotte, North Carolina, USA., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Greenwood RS; Department of Neurology, Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA., Gupta P; Neurofibromatosis Diagnostic & Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey, USA., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain.; Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Jones KJ; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Jordan JT; Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA., Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Lonardo F; Medical Genetics Unit, G. Rummo Hospital, Benevento, Italy., Mahoney MJ; Department of Genetics, Yale University, New Haven, Connecticut, USA., Ojeda MM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., McDonald MT; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Mori M; Department of Pediatrics, Warren Alpert Medical School, Brown University, Providence, Rhode Island, USA., Oostenbrink R; Department of General Pediatrics, Erasmus MC-Sophia, Rotterdam, The Netherlands., Perreault S; CHU Sainte-Justine, Mother and Child University Hospital Center, Montréal, Québec, Canada., Pierpont ME; Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA., Piscopo C; U.O.S.C. Medical Genetics, A.O.R.N. 'A. Cardarelli', Naples, Italy., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota, USA., Randolph LM; Division of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Rauen KA; Department of Pediatrics, Division of Genomic Medicine, UC Davis MIND Institute, Sacramento, California, USA., Rednam S; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Saletti V; Developmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy., Schaefer GB; Division of Medical Genetics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, Arkansas, USA., Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Shugar A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota, USA., Starr LJ; Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Syed A; DCH Regional Medical Center and Northport Medical Center, Northport, Alabama, USA., Trapane PL; Stead Family Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, Iowa, USA., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Wakefield EG; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Walsh LE; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., van Minkelen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., De Luca A; IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, San Giovanni Rotondo, Foggia, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS), Madrid, Spain.; Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Legius E; Department of Human Genetics, KU Leuven-University of Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. lmessiaen@uabmc.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 867-876. Date of Electronic Publication: 2018 Sep 07.