Blar i Bergen Open Research Archive på forfatter "Berland, Siren"

Viser treff 1-9 av 9

    • Deciphering rare imprinting disorders within the Beckwith-Wiedemann spectrum 

      Berland, Siren (Doctoral thesis, 2022-10-28)
      Beckwith-Wiedemann syndrom (BWS) er den hyppigste og mest komplekse tilstanden blant imprintingssykdommene. Avhandlingen presenterer tre ulike BWS spektrum familier, hvor vi utvider forståelsen av arvemønsteret ved BWS, ...

    • Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay 

      Berland, Siren; Haukanes, Bjørn Ivar; Juliusson, Petur Benedikt; Houge, Gunnar (Journal article; Peer reviewed, 2022)
      Background: Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene’s PCNA binding motif cause a growth-restricted condition called ...

    • Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features 

      Berland, Siren; Rustad, Cecilie; Bentsen, Mariann; Wollen, Embjørg Julianne; Turowski, Gitta Erika; Johansson, Stefan; Houge, Gunnar Douzgos; Haukanes, Bjørn Ivar (Journal article; Peer reviewed, 2021)
      Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, ...

    • Evidence for anticipation in Beckwith-Wiedemann syndrome 

      Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)
      Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ...

    • Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 

      Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)
      Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...

    • Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 

      Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frédéric; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F.; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A.; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar Douzgos; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenaël; Ljungblad, Ulf Wike; Martinez-Agosto, Julian A.; Brenman, Leslie Manace; Might, Matthew; Miller, David T.; Minks, Kelly Q.; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F.; Parant, John M.; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone B. C. Frizell; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander P. A.; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H.; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor (Journal article; Peer reviewed, 2021)
      Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ...

    • LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions 

      Lybæk, Helle; Robson, Michael; de Leeuw, Nicole; Hehir-Kwa, Jayne Y.; Jeffries, Aaron; Haukanes, Bjørn Ivar; Berland, Siren; de Bruijn, Diederik; Mundlos, Stefan; Spielmann, Malte; Houge, Gunnar Douzgos (Journal article; Peer reviewed, 2022)
      LRFN5 is a regulator of synaptic development and the only gene in a 5.4 Mb mammalian-specific conserved topologically associating domain (TAD); the LRFN5 locus. An association between locus structural changes and developmental ...

    • Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents 

      Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan (Journal article; Peer reviewed, 2020)
      Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone ...

    • Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism 

      Corder, Megan L.; Berland, Siren; Førsvoll, Jostein Andersen; Banerjee, Indraneel; Murray, Phil; Bratland, Eirik; Gokhale, David; Houge, Gunnar Douzgos; Houge, Sofia Douzgou (Journal article; Peer reviewed, 2022)
      Variants in transcription factor GLI2 have been associated with hypopituitarism and structural brain abnormalities, occasionally including holoprosencephaly (HPE). Substantial phenotypic variability and nonpenetrance have ...