Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalitiesNESS, Gro Oddveig; LYBAEK, Helle; HOUGE, Gunnar et al.American journal of medical genetics. 2002, Vol 113, Num 2, pp 125-136, issn 0148-7299, 12 p.Article

Usefulness of factor V Leiden mutation testing in clinical practiceBLINKENBERG, Ellen Ø; KRISTOFFERSEN, Ann-Helen; SANDBERG, Sverre et al.European journal of human genetics. 2010, Vol 18, Num 8, pp 862-866, issn 1018-4813, 5 p.Article

Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich-Turner syndrome patient with three childrenHOUGE, Gunnar; BOMAN, Helge; LYBAEK, Helle et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 10, pp 1092-1097, issn 1552-4825, 6 p.Article

Fabry or not Fabry ― a question of ascertainmentHOUGE, Gunnar; TØNDEL, Camilla; KAARBOE, Øyvind et al.European journal of human genetics. 2011, Vol 19, Num 11, pp 1111-1112, issn 1018-4813, 2 p.Article

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusANDERSON, Beverley H; KASHER, Paul R; OPPLIGER LEIBUNDGUT, Elisabeth et al.Nature genetics. 2012, Vol 44, Num 3, pp 338-342, issn 1061-4036, 5 p.Article

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3HORVATH, Rita; CZERMIN, Birgit; BRODHUN, Michael et al.Journal of neurology, neurosurgery and psychiatry. 2012, Vol 83, Num 2, pp 174-178, issn 0022-3050, 5 p.Article

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertionLYBAEK, Helle; ØRSTAVIK, Karen Helene; PRESCOTT, Trine et al.European journal of human genetics. 2009, Vol 17, Num 7, pp 904-910, issn 1018-4813, 7 p.Article

Inheritance of a Terminal 7.1 Mb 18p Deletion Flanked by a 2.3 Mb Duplication From a Physically Normal MotherMISCEO, Doriana; ØRSTAVIK, Karen Helene; LYBAEK, Helle et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2877-2881, issn 1552-4825, 5 p.Article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationPASUTTO, Francesca; STICHT, Heinrich; HOUGE, Gunnar et al.American journal of human genetics. 2007, Vol 80, Num 3, pp 550-560, issn 0002-9297, 11 p.Article

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA geneØRSTAVIK, Karen Helene; KNUDSEN, Gun Peggy S; NORDGARDEN, Hilde et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 13, pp 1510-1513, issn 1552-4825, 4 p.Article

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumBANKA, Siddharth; VEERAMACHANENI, Ratna; METCALFE, Kay et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 381-388, issn 1018-4813, 8 p.Article

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal developmentLYBAEK, Helle; MEZA-ZEJEDA, Leonardo A; KRESSE, Stine H et al.European journal of human genetics. 2008, Vol 16, Num 11, pp 1318-1328, issn 1018-4813, 11 p.Article

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palateSIVERTSEN, Ase; LIE, Rolv Terje; WILCOX, Allen J et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 2, pp 129-134, issn 1552-4825, 6 p.Article

Prevalence of uncontrolled hypertension in patients with fabry diseaseKLEINERT, Julia; DEHOUT, Francois; HOUGE, Gunnar et al.American journal of hypertension. 2006, Vol 19, Num 8, pp 782-787, issn 0895-7061, 6 p.Article