Marie Louise Falkenberg Smeland
Universitetslektor
Francesca Peluso,
Stefano G Caraffi,
Gianluca Contrò,
Lara Valeri,
Manuela Napoli,
Giorgia Carboni
m.fl.:
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Journal of Medical Genetics 2023 DOI
Sara E. Sheppard,
Laura Bryant,
Rochelle N. Wickramasekara,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren
m.fl.:
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Science Advances 2023 DOI
Annelise Y. Mah-Som,
Jil Daw,
Diana Huynh,
Mengcheng Wu,
Benjamin C. Creekmore,
William Burns
m.fl.:
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
American Journal of Human Genetics 2023 DOI
Ilaria Bestetti,
Milena Crippa,
Alessandra Sironi,
Francesca Tumiatti,
Maura Masciadri,
Marie Smeland
m.fl.:
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
International Journal of Molecular Sciences 2022 DOI
Nina McTiernan,
Lisbeth Tranebjærg,
Anna Steensen Bjørheim,
Jacob S. Hogue,
William G. Wilson,
Berkley Schmidt
m.fl.:
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation
Human Genetics 2022 DOI
Marie Falkenberg Smeland,
Pascal Brouillard,
Trine Prescott,
Laurence M. Boon,
Bodil Hvingel,
Cecilie Valborg Nordbakken
m.fl.:
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
Journal of Medical Genetics 2021 DOI
Oliver Murch,
Vani Jain,
Andreas Benneche,
Kay Metcalfe,
Emma Hobson,
Katrina Prescott
m.fl.:
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
European Journal of Human Genetics 14. oktober 2021 DOI
Raman Kumar,
Sabrina Oishi,
Suzy Alexander,
Maria Kasherman,
Michelle Sanchez Vega,
Atma Ivancevic
m.fl.:
Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling
Biological Psychiatry 2019 DOI
Karin Weiss,
Hayley P. Lazar,
Alina Kurolap,
Ariel F. Martinez,
Tamar Paperna,
Lior Cohen
m.fl.:
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Genetics in Medicine 2019 DOI
Marie Falkenberg Smeland,
Conor McClenaghan,
Helen I. Roessler,
Sanne Savelberg,
Geir Åsmund Myge Hansen,
Helene Hjellnes
m.fl.:
ABCC9-related intellectual disability myopathy syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
Maria Blomqvist,
Marie Falkenberg Smeland,
Julia Lindgren,
Per Sikora,
Hilde Monica Frostad Riise Stensland,
Jorge Asin-Cayuela
:
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Morad Ansari,
Gemma Poke,
Quentin Ferry,
Kathleen Williamson,
Roland Aldridge,
Alison M Meynert
m.fl.:
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Journal of Medical Genetics 2014 DOI
Claudia Voigt,
André Mégarbané,
Kornelia Neveling,
Johanna Christina Czeschik,
Beate Albrecht,
Bert Callewaert
m.fl.:
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Orphanet Journal of Rare Diseases 2013 DOI
Karin Weiss,
Hayley P. Lazar,
Alina Kurolap,
Ariel F. Martinez,
Tamar Paperna,
Lior Cohen
m.fl.:
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (Genetics in Medicine, (2020), 22, 2, (389-397), 10.1038/s41436-019-0612-0)
Genetics in Medicine 2020 DOI
Karin Weiss,
Hayley Lazar,
Alina Kurolap,
Ariel Martinez,
Tamar Paperna,
Lior Cohen
m.fl.:
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype?phenotype correlations, and molecular basis (Genetics in Medicine, (2019), 10.1038/s41436-019-0612-0)
Genetics in Medicine 2019 DOI
Hilde Jensvoll,
Marie Falkenberg Smeland,
Heidi Tiller,
Øystein Lunde Holla,
Trine Prescott,
Anders Vik
:
En gravid kvinne med pancytopeni
Tidsskrift for Den norske legeforening 2019 DOI
Marie Falkenberg Smeland,
Mona Nystad,
Arild Leknessund,
Nick Hickson,
Kristin Sjåvik,
Agnete Jørgensen
m.fl.:
A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
2017
Marie Falkenberg Smeland,
Arild Leknessund,
N Hickson,
Kristin Sjåvik,
Agnete Jørgensen,
Trine Prescott
:
A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
2017
Marie Falkenberg Smeland,
Mona Nystad,
Arild Leknessund,
Nick Hickson,
Kristin Sjåvik,
Agnete Jørgensen
m.fl.:
A novel PIK3CA mutation in Megalencephaly – capillary malformation syndrome with extreme brain overgrowth and 45,X mosaicism: related or coincidental phenomena?
2017
De 50 siste resultatene fra Cristin vises på siden. Se alle arbeider i Cristin her →