Nina Jäntti

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Articles

Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(12):3195-3200
Two novel mutations in XYLT2 cause spondyloocular syndrome
Taylan F; Abali ZY; Jaentti N; Gunes N; Darendeliler F; Bas F; Poyrazoglu S; Tamcelik N; Tuysuz B; Makitie O
Article: OSTEOPOROSIS INTERNATIONAL. 2017;28(10):3023-3032
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kampe AJ; Costantini A; Makitie RE; Jantti N; Valta H; Mayranpaa M; Kroger H; Pekkinen M; Taylan F; Jiao H; Makitie O
Journal article: BONE ABSTRACTS. 2017
A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism
Doulgeraki A; Costantini A; Kampe A; Karavitakis E; Jantti N; Krallis P; Athanasopoulou H; Xaidara A; Makitie O
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie O; Grigelioniene G; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164(7):1635-1641
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Grigelioniene G; Geiberger S; Horemuzova E; Mostrom E; Jantti N; Neumeyer L; Astrom E; Nordenskjold M; Nordgren A; Makitie O

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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
Parental mosaicism is underestimated in rare intellectual disability syndromes
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A

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