Eva Horemuzova

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: NPJ GENOMIC MEDICINE. 2023;8(1):39
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Jacob P; Lindelof H; Rustad CF; Sutton VR; Moosa S; Udupa P; Hammarsjo A; Bhavani GS; Batkovskyte D; Tveten K; Dalal A; Horemuzova E; Nordgren A; Tham E; Shah H; Merckoll E; Orellana L; Nishimura G; Girisha KM; Grigelioniene G
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908
Case Report: Inversion of LMX1B-A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Lindelof H; Horemuzova E; Voss U; Nordgren A; Grigelioniene G; Hammarsjo A
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2020;109(10):2067-2074
Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
Gkourogianni A; Andrade AC; Jonsson B-A; Segerlund E; Werner-Sperker A; Horemuzova E; Dahlgren J; Burstedt M; Nilsson O
Article: NATURE MEDICINE. 2019;25(4):583-590
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
Article: HUMAN MUTATION. 2018;39(10):1456-1467
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(4):753-760
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal GF; Nishimura G; Voss U; Bertola DR; Astrom E; Svensson J; Yamamoto GL; Hammarsjo A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:96
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort
Utriainen P; Valta H; Bjornsdottir S; Makitie O; Horemuzova E
Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang Z; Horemuzova E; Iida A; Guo L; Liu Y; Matsumoto N; Nishimura G; Nordgren A; Miyake N; Tham E; Grigelioniene G; Ikegawa S
Article: SKELETAL RADIOLOGY. 2016;45(11):1557-1560
Autosomal recessive brachyolmia: early radiological findings
Handa A; Tham E; Wang Z; Horemuzova E; Grigelioniene G
Article: CLINICAL GENETICS. 2015;87(3):273-278
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Makitie O; Geiberger S; Horemuzova E; Hagenas L; Mostrom E; Nordenskjold M; 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
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2014;103(1):38-47
Growth charts and long-term sequelae in extreme preterm infants - from full-term age to 10 years
Horemuzova E; Amark P; Jacobson L; Soder O; Hagenas L
Article: HUMAN MUTATION. 2013;34(10):1381-1386
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida A; Simsek-Kiper PO; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;92(6):990-995
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger S; Gorna MW; Le Bechec A; Do Vale-Pereira S; Bedeschi MF; Geiberger S; Grigelioniene G; Horemuzova E; Lalatta F; Lausch E; Magnan C; Nampoothiri S; Nishimura G; Petrella D; Rojas-Ringeling F; Utsunomiya A; Zabel B; Pradervand S; Harshman K; Campos-Xavier B; Bonafe L; Superti-Furga G; Stevenson B; Superti-Furga A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2012;101(3):292-299
Growth charts for monitoring postnatal growth at NICU of extreme preterm-born infants
Horemuzova E; Soder O; Hagenas L
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2009;98(2):261-265
Visual impairment is common in children born before 25 gestational weeks-boys are more vulnerable than girls
Jacobson L; Hard A-L; Horemuzova E; Hammaren H; Hellstrom A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2002;91(3):280-286
Increased inspiratory effort in infants with a history of apparent life-threatening event
Horemuzova E; Katz-Salamon M; Milerad J
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2000;89(11):1284-1289
Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth
Horemuzova E; Katz-Salamon M; Milerad J

Alla övriga publikationer

Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Thesis / dissertation: 2013
Growth and morbidity in extreme preterm born infants
Horemuzova, Eva

Anställningar

Anknuten till Forskning, Molekylär medicin och kirurgi, Karolinska Institutet, 2021-2024

Examina och utbildning

Medicine Doktorsexamen, Institutionen för kvinnors och barns hälsa, Karolinska Institutet, 2013

Artiklar

Alla övriga publikationer

Anställningar

Examina och utbildning

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