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    Wyświetlanie 1-12 z 12
    Tytuł:
    Evidence of the Role of Inflammation and the Hormonal Environment in the Pathogenesis of Adrenal Myelolipomas in Congenital Adrenal Hyperplasia.
    Autorzy:
    Kolli V; National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.
    Frucci E; National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.
    da Cunha IW; Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.; D'Or Institute for Research and Education (IDOR), São Paulo 05403, Brazil.
    Iben JR; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
    Kim SA; Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.
    Mallappa A; National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.
    Li T; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
    Faucz FR; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
    Kebebew E; Division of General Surgery, Department of Surgery, Stanford University School of Medicine, Palo Alto, CA 94304, USA.
    Nilubol N; National Cancer Institute, Bethesda, MD 20892, USA.
    Quezado MM; Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892, USA.
    Merke DP; National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2024 Feb 22; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 22.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Adrenal Hyperplasia, Congenital*
    Myelolipoma*/pathology
    Adrenal Gland Neoplasms*/genetics
    Lipoma*
    Leukemia, Myeloid, Acute*
    Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Autorzy:
    Lao Q; National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
    Burkardt DD; National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
    Kollender S; National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
    Faucz FR; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
    Merke DP; National Institutes of Health Clinical Center, Bethesda, Maryland, USA.; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2195. Date of Electronic Publication: 2023 May 08.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, N.I.H., Intramural
    MeSH Terms:
    Adrenal Hyperplasia, Congenital*/genetics
    Female ; Humans ; Alleles ; Genetic Testing ; Steroid 21-Hydroxylase/genetics ; Young Adult
    SCR Disease Name:
    Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
    Autorzy:
    Lao Q; National Institutes of Health Clinical Center, Bethesda, MD, USA.
    Mallappa A; National Institutes of Health Clinical Center, Bethesda, MD, USA.
    Rueda Faucz F; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
    Joyal E; National Institutes of Health Clinical Center, Bethesda, MD, USA.
    Veeraraghavan P; National Institutes of Health Clinical Center, Bethesda, MD, USA.
    Chen W; PreventionGenetics, Marshfield, WI, USA.
    Merke DP; National Institutes of Health Clinical Center, Bethesda, MD, USA.; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Feb; Vol. 9 (2), pp. e1556. Date of Electronic Publication: 2020 Dec 17.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, N.I.H., Intramural
    MeSH Terms:
    Phenotype*
    Adrenal Hyperplasia, Congenital/*complications
    Ehlers-Danlos Syndrome/*genetics
    Tenascin/*genetics
    Adrenal Hyperplasia, Congenital/genetics ; Adult ; Cells, Cultured ; Child, Preschool ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/pathology ; Female ; Fibroblasts/metabolism ; Humans ; Male ; Middle Aged ; Mutation ; RNA Splice Sites ; Steroid 21-Hydroxylase/genetics ; Tenascin/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
    Autorzy:
    Kolli V; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA.
    Kim H; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA.
    Rao H; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA.
    Lao Q; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA.
    Gaynor A; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA.
    Milner JD; National Institute of Allergy and Infectious Diseases, Bethesda, MD, 20892, USA.
    Merke DP; National Institutes of Health Clinical Center, 10 Center Drive, Building 10, Room 1-2740, Bethesda, MD, 20892-1932, USA. .; The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA. .
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    Źródło:
    BMC research notes [BMC Res Notes] 2019 Oct 30; Vol. 12 (1), pp. 711. Date of Electronic Publication: 2019 Oct 30.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Adrenal Hyperplasia, Congenital/*blood
    Ehlers-Danlos Syndrome/*blood
    Tenascin/*blood
    Tenascin/*genetics
    Adolescent ; Adrenal Hyperplasia, Congenital/genetics ; Adult ; Aged ; Biomarkers/blood ; Child ; Child, Preschool ; Connective Tissue Diseases/diagnosis ; Ehlers-Danlos Syndrome/genetics ; Female ; Gene Deletion ; Humans ; Joint Instability/diagnosis ; Male ; Middle Aged ; Mutation ; Phenotype ; Steroid 21-Hydroxylase/genetics ; Young Adult
    SCR Disease Name:
    Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Positive fertility outcomes in a female with classic congenital adrenal hyperplasia following bilateral adrenalectomy.
    Autorzy:
    Dagalakis U; National Institutes of Health, Clinical Center, 10 Center Drive Building 10, Rm 1-2740, Bethesda, 20892-1932 MD USA ; Albany Medical College, Albany, NY USA.
    Mallappa A; National Institutes of Health, Clinical Center, 10 Center Drive Building 10, Rm 1-2740, Bethesda, 20892-1932 MD USA.
    Elman M; National Institutes of Health, Clinical Center, 10 Center Drive Building 10, Rm 1-2740, Bethesda, 20892-1932 MD USA.
    Quezado M; National Cancer Institute, Bethesda, MD USA.
    Merke DP; National Institutes of Health, Clinical Center, 10 Center Drive Building 10, Rm 1-2740, Bethesda, 20892-1932 MD USA ; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD USA.
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    Źródło:
    International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2016; Vol. 2016, pp. 10. Date of Electronic Publication: 2016 May 20.
    Typ publikacji:
    Case Reports
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Emotional memory in early steroid abnormalities: an FMRI study of adolescents with congenital adrenal hyperplasia.
    Autorzy:
    Mazzone L; Division of Child Neurology and Psychiatry, University of Catania, Catania, Italy.
    Mueller SC
    Maheu F
    VanRyzin C
    Merke DP
    Ernst M
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    Źródło:
    Developmental neuropsychology [Dev Neuropsychol] 2011; Vol. 36 (4), pp. 473-92.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Adrenal Hyperplasia, Congenital*/complications
    Adrenal Hyperplasia, Congenital*/metabolism
    Adrenal Hyperplasia, Congenital*/pathology
    Brain/*blood supply
    Emotions/*physiology
    Memory/*physiology
    Steroids/*metabolism
    Adolescent ; Brain/pathology ; Brain Mapping ; Child ; Female ; Humans ; Image Processing, Computer-Assisted ; Intelligence ; Magnetic Resonance Imaging/methods ; Male ; Oxygen/blood ; Photic Stimulation/methods ; Reaction Time/physiology ; Statistics as Topic
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency.
    Autorzy:
    Speiser PW; Division of Pediatric Endocrinology, Cohen Children's Medical Center of New York, Hofstra University School of Medicine, 400 Lakeville Rd., Suite 180, New Hyde Park, NY 11040, USA.
    Azziz R
    Baskin LS
    Ghizzoni L
    Hensle TW
    Merke DP
    Meyer-Bahlburg HF
    Miller WL
    Montori VM
    Oberfield SE
    Ritzen M
    White PC
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    Źródło:
    International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2010; Vol. 2010, pp. 494173. Date of Electronic Publication: 2010 Jun 30.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.
    Autorzy:
    Auchus RJ; Division of Endocrinology, Department of Medicine, University of Texas Southwestern Medical School, Dallas, TX 75390, USA.
    Witchel SF
    Leight KR
    Aisenberg J
    Azziz R
    Bachega TA
    Baker LA
    Baratz AB
    Baskin LS
    Berenbaum SA
    Breault DT
    Cerame BI
    Conway GS
    Eugster EA
    Fracassa S
    Gearhart JP
    Geffner ME
    Harris KB
    Hurwitz RS
    Katz AL
    Kalro BN
    Lee PA
    Alger Lin G
    Loechner KJ
    Marshall I
    Merke DP
    Migeon CJ
    Miller WL
    Nenadovich TL
    Oberfield SE
    Pass KA
    Poppas DP
    Lloyd-Puryear MA
    Quigley CA
    Riepe FG
    Rink RC
    Rivkees SA
    Sandberg DE
    Schaeffer TL
    Schlussel RN
    Schneck FX
    Seely EW
    Snyder D
    Speiser PW
    Therrell BL
    Vanryzin C
    Vogiatzi MG
    Wajnrajch MP
    White PC
    Zuckerman AE
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    Źródło:
    International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2010; Vol. 2010, pp. 275213. Date of Electronic Publication: 2011 Jan 10.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Congenital adrenal hyperplasia.
    Autorzy:
    Merke DP; Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development and the Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1932, USA. />Bornstein SR
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    Źródło:
    Lancet (London, England) [Lancet] 2005 Jun 18-24; Vol. 365 (9477), pp. 2125-36.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Adrenal Hyperplasia, Congenital*/complications
    Adrenal Hyperplasia, Congenital*/diagnosis
    Adrenal Hyperplasia, Congenital*/physiopathology
    Adrenal Hyperplasia, Congenital*/therapy
    Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-12 z 12

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