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Wyszukujesz frazę ""Skinner SA"" wg kryterium: Autor


Tytuł:
Clinical findings from the landmark MEF2C-related disorders natural history study.
Autorzy:
Cooley Coleman JA; School of Nursing, Clemson University, Clemson, South Carolina, USA.; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Sarasua SM; School of Nursing, Clemson University, Clemson, South Carolina, USA.
Moore HW; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Boccuto L; School of Nursing, Clemson University, Clemson, South Carolina, USA.
Cowan CW; Department of Neuroscience, Medical University of South Carolina, Charleston, South Carolina, USA.
Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA.
DeLuca JM; School of Nursing, Clemson University, Clemson, South Carolina, USA.; Greenwood Genetic Center, Greenwood, South Carolina, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1919. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Intellectual Disability*/genetics
Female ; Humans ; MEF2 Transcription Factors/genetics ; Muscle Hypotonia/genetics ; Phenotype ; Seizures/genetics
Czasopismo naukowe
Tytuł:
Autistic Disorder: A 20 Year Chronicle.
Autorzy:
Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.
Pauly R; Greenwood Genetic Center, Greenwood, SC, USA.
Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.
Schroer RJ; Greenwood Genetic Center, Greenwood, SC, USA.
Simensen RJ; Greenwood Genetic Center, Greenwood, SC, USA.
Taylor HA; Greenwood Genetic Center, Greenwood, SC, USA.
Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.
DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA.
Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA. .; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2021 Feb; Vol. 51 (2), pp. 677-684.
Typ publikacji:
Journal Article
MeSH Terms:
Surveys and Questionnaires*
Autistic Disorder/*diagnosis
Autistic Disorder/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Adolescent ; Autistic Disorder/psychology ; Child ; Child, Preschool ; Cohort Studies ; Educational Status ; Female ; Follow-Up Studies ; Genetic Testing/methods ; Humans ; Intellectual Disability/psychology ; Male ; South Carolina/epidemiology ; Time Factors ; Young Adult
Czasopismo naukowe
Tytuł:
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Autorzy:
Warren HE; Greenwood Genetic Center Greenwood South Carolina.
Louie RJ; Greenwood Genetic Center Greenwood South Carolina.
Friez MJ; Greenwood Genetic Center Greenwood South Carolina.
Frías JL; Department of Pediatrics University of South Florida Tampa Florida.
Leroy JG; Greenwood Genetic Center Greenwood South Carolina.
Spranger JW; Greenwood Genetic Center Greenwood South Carolina.
Skinner SA; Greenwood Genetic Center Greenwood South Carolina.
Champaigne NL; Greenwood Genetic Center Greenwood South Carolina.
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Źródło:
Clinical case reports [Clin Case Rep] 2018 Oct 15; Vol. 6 (11), pp. 2252-2255. Date of Electronic Publication: 2018 Oct 15 (Print Publication: 2018).
Typ publikacji:
Case Reports
Raport
Tytuł:
Assessment of Caregiver Inventory for Rett Syndrome.
Autorzy:
Lane JB; Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL, 35294-0021, USA.
Salter AR; School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Jones NE; Neuren Pharmaceuticals, Camberwell, Australia.
Cutter G; School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Horrigan J; Department of Psychiatry, University of North Carolina, Chapel Hill, NC, USA.
Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.
Kaufmann WE; Greenwood Genetic Center, Greenwood, SC, USA.; Department of Neurology, Boston Children's Hospital (Harvard), Boston, MA, USA.
Glaze DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Neul JL; Department of Neuroscience, University of California San Diego, La Jolla, CA, USA.
Percy AK; Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL, 35294-0021, USA. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2017 Apr; Vol. 47 (4), pp. 1102-1112.
Typ publikacji:
Journal Article
MeSH Terms:
Caregivers/*psychology
Rett Syndrome/*psychology
Rett Syndrome/*therapy
Surveys and Questionnaires/*standards
Adaptation, Psychological ; Adult ; Emotions ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Reproducibility of Results
Czasopismo naukowe
Tytuł:
Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.
Autorzy:
Ward CS; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States of America.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, United States of America.
Huang TW; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, United States of America.
Herrera JA; Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, United States of America.
Samaco RC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States of America.; Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, United States of America.
Pitcher MR; Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, United States of America.
Herron A; Center for Comparative Medicine, Baylor College of Medicine, Houston, TX 77030, United States of America.
Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, United States of America.
Kaufmann WE; Greenwood Genetic Center, Greenwood, SC 29646, United States of America.; Boston Children's Hospital, Boston, MA 02115, United States of America.
Glaze DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States of America.
Percy AK; University of Alabama, Birmingham, Birmingham, AL 35294, United States of America.
Neul JL; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, United States of America.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States of America.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, United States of America.; Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX 77030, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, United States of America.
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Źródło:
PloS one [PLoS One] 2016 Nov 09; Vol. 11 (11), pp. e0165550. Date of Electronic Publication: 2016 Nov 09 (Print Publication: 2016).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Methyl-CpG-Binding Protein 2/*genetics
Renal Insufficiency/*genetics
Rett Syndrome/*genetics
Urethral Obstruction/*genetics
Urinary Retention/*genetics
Animals ; Databases, Factual ; Disease Models, Animal ; Female ; Gene Expression ; Humans ; Male ; Methyl-CpG-Binding Protein 2/deficiency ; Mice ; Penetrance ; Renal Insufficiency/complications ; Renal Insufficiency/mortality ; Renal Insufficiency/physiopathology ; Rett Syndrome/complications ; Rett Syndrome/mortality ; Rett Syndrome/physiopathology ; Species Specificity ; Survival Analysis ; Urethral Obstruction/complications ; Urethral Obstruction/mortality ; Urethral Obstruction/physiopathology ; Urinary Retention/complications ; Urinary Retention/mortality ; Urinary Retention/physiopathology
Czasopismo naukowe
Tytuł:
Importance of genetic testing in global health during the evaluation of familial microcephaly.
Autorzy:
Molinero I; The Children's Hospital at Montefiore University Hospital for Albert Einstein College of Medicine Bronx New York USA.
Broman-Fulks J; College of Medicine Medical University of South Carolina Charleston South Carolina USA.
Lyons MJ; Greenwood Genetic Center Greenwood South Carolina USA.
Matheus MG; Departments of Radiology and Radiological Science Medical University of South Carolina Charleston South Carolina USA.
Chaubey A; Greenwood Genetic Center Greenwood South Carolina USA.
DuPont BR; Greenwood Genetic Center Greenwood South Carolina USA.
Friez MJ; Greenwood Genetic Center Greenwood South Carolina USA.
Skinner SA; Greenwood Genetic Center Greenwood South Carolina USA.
Holden KR; Greenwood Genetic Center Greenwood South Carolina USA; Departments of Neurosciences (Neurology) and Pediatrics Medical University of South Carolina Charleston South Carolina USA.
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Źródło:
Clinical case reports [Clin Case Rep] 2016 Aug 26; Vol. 4 (10), pp. 968-971. Date of Electronic Publication: 2016 Aug 26 (Print Publication: 2016).
Typ publikacji:
Case Reports
Raport

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