Autor: "Edmondson AC" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: A human case of SLC35A3-related skeletal dysplasia.
Autorzy :: Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
Bedoukian EC; Section of Genetic Counseling, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Deardorff MA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
McDonald-McGinn DM; Section of Genetic Counseling, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Li X; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
He M; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Oct; Vol. 173 (10), pp. 2758-2762. Date of Electronic Publication: 2017 Aug 04.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Mutation, Missense*
Nucleotide Transport Proteins/*genetics
Osteochondrodysplasias/*pathology
Adult ; Female ; Glycosylation ; Homozygote ; Humans ; Infant, Newborn ; Osteochondrodysplasias/genetics ; Prognosis
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Autorzy :: Long A; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
Sinkovskaya ES; Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Norfolk, Virginia.
Edmondson AC; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai E; Department of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3333-3337. Date of Electronic Publication: 2016 Aug 29.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Abnormalities, Multiple/*diagnosis
Abnormalities, Multiple/*genetics
Ascites/*etiology
Face/*abnormalities
Hematologic Diseases/*diagnosis
Hematologic Diseases/*genetics
Hydrops Fetalis/*etiology
Vestibular Diseases/*diagnosis
Vestibular Diseases/*genetics
Adult ; Alleles ; Ascites/diagnosis ; Chromosome Banding ; DNA-Binding Proteins/genetics ; Facies ; Female ; Hematologic Diseases/complications ; Humans ; Hydrops Fetalis/diagnosis ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; Mutation ; Neoplasm Proteins/genetics ; Phenotype ; Physical Examination ; Pregnancy ; Prenatal Diagnosis ; Quantitative Trait Loci ; Vestibular Diseases/complications
SCR Disease Name :: Kabuki syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Autorzy :: Lin AE; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. .
Michot C; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.
Cormier-Daire V; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.
L'Ecuyer TJ; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
Matherne GP; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
Barnes BH; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.
Edmondson AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
O'Connor MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
Ebeid MR; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
Krier J; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Krieg E; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Ghoshhajra B; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Lindsay ME; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2617-31. Date of Electronic Publication: 2016 Jun 14.
Typ publikacji :: Case Reports; Journal Article; Review
MeSH Terms :: Mutation*
Phenotype*
Cardiovascular Abnormalities/*diagnosis
Cardiovascular Abnormalities/*genetics
Cryptorchidism/*diagnosis
Cryptorchidism/*genetics
Growth Disorders/*diagnosis
Growth Disorders/*genetics
Hand Deformities, Congenital/*diagnosis
Hand Deformities, Congenital/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Smad4 Protein/*genetics
Adolescent ; Adult ; Cardiovascular Abnormalities/therapy ; Child ; Cryptorchidism/therapy ; Echocardiography ; Exons ; Facies ; Female ; Genetic Association Studies ; Growth Disorders/therapy ; Hand Deformities, Congenital/therapy ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/therapy ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed ; Treatment Outcome ; Ultrasonography ; Young Adult
SCR Disease Name :: Growth mental deficiency syndrome of Myhre
: Czasopismo naukowe

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