Výsledky vyhledávání - "Jennifer Hague"

Akademický článek

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Autor: Jennifer Hague, Ruth Casey, Jonathan Bruty, Tom Legerton, Stephen Abbs, Susan Oddy, Andrew S Powlson, Mohamed Majeed, Mark Gurnell, Soo-Mi Park, Helen Simpson

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)

Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotoni

Externí odkaz: https://doaj.org/article/1abe7f5dce5a496e8663179c8fb1a3f5

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Small-Cell Carcinoma of the Ovary, Hypercalcemic Type–Genetics, New Treatment Targets, and Current Management Guidelines

Autor: Susana Banerjee, Patricia Pautier, Bernard E. Weissman, W. Glenn McCluggage, Krystal A. Orlando, David G. Huntsman, Sidong Huang, William P.D. Hendricks, Isabelle Ray-Coquard, Douglas A. Levine, Amit M. Oza, Leora Witkowski, Jeffrey M. Trent, William D. Foulkes, Jessica D. Lang, Marc Tischkowitz, Michael Witcher, Jennifer Hague

Publikováno v: Clin Cancer Res

Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and highly aggressive ovarian malignancy. In almost all cases, it is associated with somatic and often germline pathogenic variants in SMARCA4, which encodes for the SMARCA4 pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ba71cfca59524906fb5098714bcf9e
https://doi.org/10.1158/1078-0432.ccr-19-3797

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Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Autor: Jennifer Hague, Soo-Mi Park, Philip Twiss, Zoe Mead

Publikováno v: Pediatric and Developmental Pathology. 22:475-479

Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant intellectual disability and global developmental delay, hirsutism, and upper-limb reduction d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f84b1978baa54bc954921f51e1ee37a4
https://doi.org/10.1177/1093526619834429

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Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Autor: Soo-Mi Park, Carlo Marcelis, Katrin Oberndorff, Benjamin Cogné, Diana Mitter, Constance T. R. M. Stumpel, Rami Abou Jamra, Konrad Platzer, Alexander P.A. Stegmann, Ingrid Simonic, Marie Vincent, Johannes R. Lemke, Jennifer Hague, Jasper J. van der Smagt, Hans Kristian Ploos van Amstel, Servi J. C. Stevens

Publikováno v: Annals of Neurology. 84:200-207

Objective Developmental delay (DD) with favorable intellectual outcome and mild intellectual disability (ID) are mostly considered to be of complex genetic and environmental origin, but, in fact, often remain unclear. We aimed at proving our assumpti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8466a38c56d6bc31b3311ea99953d87
https://doi.org/10.1002/ana.25278

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Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

Autor: Leanne Sparnon, Jennifer Hague, Soo-Mi Park, Howard Martin, Ingrid Simonic, Isabelle Delon, Kim Brügger, Stephen Abbs

Publikováno v: American Journal of Medical Genetics Part A. 173:1931-1935

Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6031cd857d32bd785bd12485c05ccddf
https://doi.org/10.1002/ajmg.a.38261

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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

Publikováno v: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 4, pp. 557-564
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 557-564
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. WILEY
American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Item does not contain fulltext CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype. This study reports 27 unrelated patients with pathogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3264e73bb704ac5d8c7608f78ec2c1b6
https://doi.org/10.1002/ajmg.c.31749

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Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenicMYH3mutation

Autor: Kim Brügger, Stephen Abbs, Howard Martin, Jennifer Hague, Isabelle Delon, Soo-Mi Park

Publikováno v: American Journal of Medical Genetics Part A. 170:1608-1612

We report a case of a female child who has classical Freeman-Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G > A, p. (Arg672His), in MYH3 where the phenotypically normal mother

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4ad76e6d11fc7860730c26ade378a3
https://doi.org/10.1002/ajmg.a.37631

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Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrentHRASmutation p.Gly12Ser

Autor: Jennifer Hague, Soo-Mi Park, G. A. Hackett, Carlo L. Acerini

Publikováno v: Prenatal Diagnosis. 37:409-411

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7423df6b6bc5ce741645323d9cd79973
https://doi.org/10.1002/pd.5009

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Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD)

Autor: Mark Gurnell, Susan Oddy, Soo-Mi Park, Mohamed Ashif Majeed, Helen Simpson, Jennifer Hague, Jonathan Bruty, Andrew S. Powlson, Tom Legerton, Stephen Abbs, Ruth T Casey

Publikováno v: Endocrinology, Diabetes & Metabolism Case Reports
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)

Summary Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc7e2b707e4644023bcc388c26a3bcfd

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