Marte Gjøl Haug
Publikasjoner
2023
-
Hirschenberger, Maximilian;
Lepelley, Alice;
Rupp, Ulrich;
Klute, Susanne;
Hunszinger, Victoria;
Koepke, Lennart.
(2023)
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Nature Communications
Vitenskapelig artikkel
2022
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Gerber, Céline B.;
Fliedner, Anna;
Bartsch, Oliver;
Berland, Siren;
Dewenter, Malin;
Haug, Marte Gjøl.
(2022)
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clinical Genetics
Vitenskapelig artikkel
2021
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Sørensen, Ida W.;
Glad, Ragnhild;
Houge, Gunnar;
Blomhoff, Anne;
Haug, Marte G.;
Steen, Vidar M..
(2021)
Mer treffsikker fosterdiagnostikk.
Tidsskrift for Den norske legeforening (Tidsskriftet)
Vitenskapelig artikkel
-
Lippe, Charlotte von der;
Tveten, Kristian;
Prescott, Trine;
Holla, Øystein Lunde;
Busk, Øyvind Løvold;
Burke, Katherine B..
(2021)
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
American Journal of Medical Genetics. Part A
Vitenskapelig artikkel
2020
-
Ferreira, Carlos R;
Zein, Wadih M;
Huryn, Laryssa;
Merker, Andrea;
Berger, Seth;
Wilson, William G.
(2020)
Defining the clinical phenotype of Saul–Wilson syndrome.
Genetics in Medicine
Vitenskapelig artikkel
2018
-
Ferreira, Carlos R;
Xia, Zhi-Jie;
Clement, Aurelie;
Parry, David A;
Davids, Mariska;
Taylan, Fulya.
(2018)
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
American Journal of Human Genetics
Vitenskapelig artikkel
-
Hemati, Parisa;
Revah-Politi, Anya;
Bassan, Haim;
Petrovski, Slavé;
Bilancia, Colleen G.;
Ramsey, Keri.
(2018)
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
American Journal of Medical Genetics. Part A
Vitenskapelig artikkel
2017
-
Clemens, Ilka;
Bergseng, Håkon;
Haugen, Stein Erik;
Haug, Marte Gjøl;
Kahrs, Birgitte Heiberg;
Røset, Maria Aurora Hernandez.
(2017)
The prenatal diagnosis of volvulus in a fetus with congenital diarrhea (CD) probably associated with GUCY2C gene variant.
Ultrasound in Obstetrics and Gynecology
Sammendrag/Abstract
2016
-
Aukrust, Ingvild;
Jansson, Ragnhild Wivestad;
Bredrup, Cecilie;
Rusaas, Hilde E.;
Berland, Siren;
Jørgensen, Agnete.
(2016)
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmologica
Vitenskapelig artikkel
Tidsskriftspublikasjoner
-
Hirschenberger, Maximilian;
Lepelley, Alice;
Rupp, Ulrich;
Klute, Susanne;
Hunszinger, Victoria;
Koepke, Lennart.
(2023)
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Nature Communications
Vitenskapelig artikkel
-
Gerber, Céline B.;
Fliedner, Anna;
Bartsch, Oliver;
Berland, Siren;
Dewenter, Malin;
Haug, Marte Gjøl.
(2022)
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clinical Genetics
Vitenskapelig artikkel
-
Sørensen, Ida W.;
Glad, Ragnhild;
Houge, Gunnar;
Blomhoff, Anne;
Haug, Marte G.;
Steen, Vidar M..
(2021)
Mer treffsikker fosterdiagnostikk.
Tidsskrift for Den norske legeforening (Tidsskriftet)
Vitenskapelig artikkel
-
Lippe, Charlotte von der;
Tveten, Kristian;
Prescott, Trine;
Holla, Øystein Lunde;
Busk, Øyvind Løvold;
Burke, Katherine B..
(2021)
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
American Journal of Medical Genetics. Part A
Vitenskapelig artikkel
-
Ferreira, Carlos R;
Zein, Wadih M;
Huryn, Laryssa;
Merker, Andrea;
Berger, Seth;
Wilson, William G.
(2020)
Defining the clinical phenotype of Saul–Wilson syndrome.
Genetics in Medicine
Vitenskapelig artikkel
-
Ferreira, Carlos R;
Xia, Zhi-Jie;
Clement, Aurelie;
Parry, David A;
Davids, Mariska;
Taylan, Fulya.
(2018)
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
American Journal of Human Genetics
Vitenskapelig artikkel
-
Hemati, Parisa;
Revah-Politi, Anya;
Bassan, Haim;
Petrovski, Slavé;
Bilancia, Colleen G.;
Ramsey, Keri.
(2018)
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
American Journal of Medical Genetics. Part A
Vitenskapelig artikkel
-
Clemens, Ilka;
Bergseng, Håkon;
Haugen, Stein Erik;
Haug, Marte Gjøl;
Kahrs, Birgitte Heiberg;
Røset, Maria Aurora Hernandez.
(2017)
The prenatal diagnosis of volvulus in a fetus with congenital diarrhea (CD) probably associated with GUCY2C gene variant.
Ultrasound in Obstetrics and Gynecology
Sammendrag/Abstract
-
Aukrust, Ingvild;
Jansson, Ragnhild Wivestad;
Bredrup, Cecilie;
Rusaas, Hilde E.;
Berland, Siren;
Jørgensen, Agnete.
(2016)
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Acta Ophthalmologica
Vitenskapelig artikkel
Formidling
2025
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PosterNyrnes, Siri Ann; Haug, Marte Gjøl; Sæther, Rakel Rian; Klocke, Vanessa Solvang; Bjørås, Magnar. (2025) Innovative clinical treatment synergized with cardiac disease modeling in Noonan syndrome. 9th World Congress of Pediatric Cardiology and Cardiac Surgery (WCPCCS) , Hong Kong 2025-12-06 - 2025-12-11
2020
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IntervjuBlomhoff, Anne; Ebbing, Cathrine; Eggebø, Torbjørn Moe; Glad, Ragnhild; Haug, Marte Gjøl; Haugen, Guttorm. (2020) De foreslåtte endringene i bioteknologiloven er et fremskritt for kvinnehelsen. 15 representanter fra det fostermedisinske fagmiljø. Aftenposten Aftenposten [null] 2020-05-22
2017
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PosterClemens, Ilka; Bergseng, Håkon; Haugen, Stein Erik; Haug, Marte Gjøl; Kahrs, Birgitte Heiberg; Røset, Maria Aurora Hernandez. (2017) The prenatal diagnosis of volvulus in a fetus with congenital diarrhea (CD) probably associated with GUCY2C gene variant. 27th World Congress on Ultrasound in Obstetrics and Gynecology , Wien 2017-09-16 - 2017-09-19
2015
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Vitenskapelig foredragClemens, Ilka; Røset, Maria Aurora Hernandez; Lorås, Liv; Vogt, Christina; Haug, Marte Gjøl; Naumann, Svenne. (2015) Short rib polydactyly syndrome (SRPS). De 28. Norske Perinataldager , Bergen 2015-11-04 - 2015-11-06