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51

Fetal gender adjustment decreases the expected variance in non-invasive prenatal testing analysis

Johansen, Peter, Duno, Morten, Kjaergaard, Susanne

Journal:

Prenatal Diagnosis

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

52

A mitochondrial tRNAMet mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

Born, Alfred Peter, Duno, Morten, Rafiq, Jabin, Risom, Lotte, Wibrand, Flemming, Østergaard, Elsebet, Vissing, John

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 520 KB

english, 2015

53

LAMA2 -related myopathy; frequency among congenital and limb-girdle muscular dystrophies

L⊘kken, Nicoline, Born, Alfred Peter, Duno, Morten, Vissing, John

Journal:

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

54

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

55

Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

Witting, Nanna, Crone, Clarissa, Duno, Morten, Vissing, John

Journal:

Clinical Neurology and Neurosurgery

Year:

2015

Language:

english

File:

PDF, 664 KB

english, 2015

56

Severe Axial Myopathy in McArdle Disease

Witting, Nanna, Duno, Morten, Piraud, Monique, Vissing, John

Journal:

Year:

2014

Language:

english

File:

PDF, 215 KB

english, 2014

57

dHPLC Screening of the NSD1 gene Identifies Nine Novel Mutations - Summary of the first 100 Sotos Syndrome Mutations

Melchior, Linea, Schwartz, Marianne, Duno, Morten

Journal:

Annals of Human Genetics

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

58

Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life

Faurschou, Signe, Mouritsen, Annette, Johannsen, Trine H., Hougaard, David M., Cohen, Arieh, Duno, Morten, Juul, Anders, Main, Katharina M.

Journal:

Acta Paediatrica

Year:

2015

Language:

english

File:

PDF, 272 KB

english, 2015

59

Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing

Mensah, Aurore, Witting, Nanna, Duno, Morten, Milea, Dan, Vissing, John

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 392 KB

english, 2014

60

Inherited Cardiac Diseases: Preimplantation Genetic Diagnosis - An Attractive Alternative to Prenatal Diagnosis

Theilade, Juliane, Dunø, Morten, Ziebe, Søren, Bundgaard, Henning

Journal:

European Journal of Cardiovascular Medicine

Year:

2010

Language:

english

File:

PDF, 169 KB

english, 2010

61

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

Vinther-Jensen, Tua, Ek, Jakob, Duno, Morten, Skovby, Flemming, Hjermind, Lena E, Nielsen, Jørgen E, Nielsen, Troels Tolstrup

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 701 KB

english, 2013

62

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

Drivenes, Bergitte, Born, Alfred Peter, Ek, Jakob, Dunoe, Morten, Uldall, Peter Vilhelm

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

63

Genetic Variation in the Inwardly Rectifying K + Channel Subunits KCNJ3 ( GIRK1 ) and KCNJ5 ( GIRK4 ) in Patients with Sinus Node Dysfunction

Holmegard, Haya N., Theilade, Juliane, Benn, Marianne, Duno, Morten, Haunso, Stig, Svendsen, Jesper H.

Journal:

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

64

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy

Svenstrup, Kirsten, Nielsen, Troels Tolstrup, Aidt, Frederik, Rostgaard, Nina, Duno, Morten, Wibrand, Flemming, Vinther-Jensen, Tua, Law, Ian, Vissing, John, Roos, Peter, Hjermind, Lena Elisabeth, Nie

Journal:

Year:

2017

Language:

english

File:

PDF, 1020 KB

english, 2017

65

Open source non-invasive prenatal testing platform and its performance in a public health laboratory

Johansen, Peter, Richter, Stine R., Balslev-Harder, Marie, Miltoft, Caroline B., Tabor, Ann, Duno, Morten, Kjaergaard, Susanne

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 140 KB

english, 2016

66

Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

Hove, Hanne D., Dunø, Morten, Larsen, Per, Kreiborg, Sven

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 182 KB

english, 2016

67

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy

Dali, Christine í, Barton, Norman W., Farah, Mohamed H., Moldovan, Mihai, Månsson, Jan-Eric, Nair, Nitin, Dunø, Morten, Risom, Lotte, Cao, Hongmei, Pan, Luying, Sellos-Moura, Marcia, Corse, Andrea M.,

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 1.70 MB

english, 2015

68

Hearing impairment and renal failure associated with RMND1 mutations

Ravn, Kirstine, Neland, Mette, Wibrand, Flemming, Duno, Morten, Ostergaard, Elsebet

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 439 KB

english, 2016

69

Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy

Levison, Lotte, Dunø, Morten, Risom, Lotte, Toft, Peter B., Vissing, John

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2015

Language:

english

File:

PDF, 448 KB

english, 2015

70

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

Frederiksen, Anja Lisbeth, Duno, Morten, Johnsen, Iben B. G., Nielsen, Morten Frost, Krøigård, Anne Bruun

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 595 KB

english, 2016

71

Prevalence of SHOX Haploinsufficiency among Short Statured Children

Marstrand-Joergensen, Maja Rou, Beck Jensen, Rikke, Aksglaede, Lise, Dunoe, Morten, Juul, Anders

Journal:

Pediatric Research

Year:

2016

Language:

english

File:

PDF, 1.76 MB

english, 2016

72

Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?

Vissing, John, Duno, Morten

Journal:

Year:

2016

Language:

english

File:

PDF, 170 KB

english, 2016

73

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

Witting, Nanna, Werlauff, Ulla, Duno, Morten, Vissing, John

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 645 KB

english, 2017

74

Mitochondrial point mutation m.3243A > G associates with lower bone mineral density, thinner cortices and reduced bone strength. A case-control study

Langdahl, Jakob Høgild, Frederiksen, Anja Lisbeth, Hansen, Stinus Jørn, Andersen, Per Heden, Yderstraede, Knud Bonnet, Dunø, Morten, Vissing, John, Frost, Morten

Journal:

Journal of Bone and Mineral Research

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

75

Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes

Upners, Emmie N., Jensen, Rikke B., Rajpert-De Meyts, Ewa, Dunø, Morten, Aksglaede, Lise, Juul, Anders

Journal:

Acta Paediatrica

Year:

2017

Language:

english

File:

PDF, 658 KB

english, 2017

76

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study

Andersen, Grete, Hedermann, Gitte, Witting, Nanna, Duno, Morten, Andersen, Henning, Vissing, John

Journal:

Year:

2017

Language:

english

File:

PDF, 415 KB

english, 2017

77

Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

Schönewolf-Greulich, Bitten, Bisgaard, Anne-Marie, Møller, Rikke S, Dunø, Morten, Brøndum-Nielsen, Karen, Kaur, Simran, Van Bergen, Nicole J, Lunke, Sebastian, Eggers, Stefanie, Jespersgaard, Cathrine

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.59 MB

english, 2017

78

Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

Langdahl, Jakob Høgild, Larsen, Martin, Frost, Morten, Andersen, Per Heden, Yderstraede, Knud Bonnet, Vissing, John, Dunø, Morten, Thomassen, Mads, Frederiksen, Anja Lisbeth

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

79

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

Jeppesen, Tina Dysgaard, Al-Hashimi, Noor, Duno, Morten, Wibrand, Flemming, Andersen, Grete, Vissing, John

Journal:

Clinical Case Reports

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

80

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

Vaeth, Signe, Christensen, Rikke, Dunø, Morten, Lildballe, Dorte Launholt, Thorsen, Kasper, Vissing, John, Svenstrup, Kirsten, Hertz, Jens Michael, Andersen, Henning, Jensen, Uffe Birk

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.05 MB

english, 2018

81

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

Farrell, Philip, Férec, Claude, Macek, Milan, Frischer, Thomas, Renner, Sabine, Riss, Katharina, Barton, David, Repetto, Teresa, Tzetis, Maria, Giteau, Karine, Duno, Morten, Rogers, Melissa, Levy, Har

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 500 KB

english, 2018

82

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

Rosenberg, Thomas, Nørby, Søren, Schwartz, Marianne, Saillard, Juliette, Magalhães, Paulo J., Leroy, David, Kann, Erik C., Duno, Morten

Journal:

Investigative Opthalmology & Visual Science

Year:

2016

Language:

english

File:

PDF, 446 KB

english, 2016

83

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

Nyboe, Daniel, Kreiborg, Sven, Darvann, Tron, Dunø, Morten, Nissen, Kamilla R., Hove, Hanne B.

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 398 KB

english, 2018

84

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Schönewolf-Greulich, Bitten, Bisgaard, Anne-Marie, Dunø, Morten, Jespersgaard, Cathrine, Rokkjaer, Mette, Hansen, Lars Kjaersgaard, Tsoutsou, Eirini, Sofokleous, Christalena, Topcu, Meral, Kaur, Simra

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.15 MB

english, 2018

85

Increased risk of sudden death in untreated Primary Carnitine Deficiency

Rasmussen, Jan, Dunø, Morten, Lund, Allan M., Steuerwald, Ulrike, Hansen, Steen‐Holger, Joensen, Høgni D., Køber, Lars, Nielsen, Olav W.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.60 MB

english, 2019

86

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Hepp, Nicola, Frederiksen, Anja Lisbeth, Dunø, Morten, Jørgensen, Niklas Rye, Langdahl, Bente, Vedtofte, Poul, Hove, Hanne B., Hindsø, Klaus, Jensen, Jens-Erik Beck

Journal:

Calcified Tissue International

Year:

2019

Language:

english

File:

PDF, 754 KB

english, 2019

87

Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

Skov, Marianne, Bækvad‐Hansen, Marie, Hougaard, David M., Skogstrand, Kristin, Lund, Allan M., Pressler, Tania, Olesen, Hanne V., Duno, Morten

Journal:

Pediatric Pulmonology

Year:

2019

Language:

english

File:

PDF, 544 KB

english, 2019

88

Phenotypic variability in Muenke syndrome—observations from five Danish families

Öwall, Louise, Kreiborg, Sven, Dunø, Morten, Hermann, Nuno V., Darvann, Tron A., Hove, Hanne

Journal:

Clinical Dysmorphology

Year:

2020

File:

PDF, 461 KB

2020

89

P3-274: MODIFIERS OF AGE-AT-ONSET IN FRONTOTEMPORAL DEMENTIA LINKED TO CHROMOSOME 3 (FTD-3)

Roos, Peter, Johannsen, Peter, Lindquist, Suzanne G., Brown, Jerry, Stokholm, Jette, Waldemar, Gunhild, Duno, Morten, Nielsen, Troels Tolstrup, Nielsen, Jorgen E.

Journal:

Alzheimer's & Dementia

Year:

2019

File:

PDF, 350 KB

2019

90

A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

Vissing, John, Dahlqvist, Julia R., Roudaut, Carinne, Poupiot, Jerome, Richard, Isabelle, Duno, Morten, Krag, Thomas

Journal:

Year:

2020

File:

PDF, 383 KB

2020

91

Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

Holm-Yildiz, Sonja, Krag, Thomas, Witting, Nanna, Duno, Morten, Soerensen, Troels, Vissing, John

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2020

File:

PDF, 675 KB

2020

92

Congenital Adrenal Hyperplasia in Children: A Pilot Study of Steroid Hormones Expressed as Sex- and Age-Related Standard Deviation Scores

Clausen, CarolineÂ S., Ljubicic, MarieÂ L., Main, KatharinaÂ M., Andersson, Anna-Maria, Petersen, JÃ¸rgenÂ H., Frederiksen, Hanne, Duno, Morten, Johannsen, TrineÂ H., Juul, Anders

Journal:

Hormone Research in Paediatrics

Year:

2020

File:

PDF, 366 KB

2020

93

Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

Jeppesen, Tina D., Duno, Morten, Vissing, John

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 811 KB

2020