X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations von Savige, Judith, Storey, Helen, Il Cheong, Hae, Gyung Kang, Hee, Park, Eujin, Hilbert, Pascale, Persikov, Anton, Torres-Fernandez, Carmen, Ars, Elisabet, Torra, Roser, Hertz, Jens Michael, Thomassen, Mads, Shagam, Lev, Wang, Dongmao, Wang, Yanyan, Flinter, Frances, Nagel, Mato

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Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism von Chang, Simon, Skakkebæk, Anne, Trolle, Christian, Bojesen, Anders, Hertz, Jens Michael, Cohen, Arieh, Hougaard, David Michael, Wallentin, Mikkel, Pedersen, Anders Degn, Østergaard, John Rosendahl, Gravholt, Claus Højbjerg

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A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans von Brophy, Patrick D, Rasmussen, Maria, Parida, Mrutyunjaya, Bonde, Greg, Darbro, Benjamin W, Hong, Xiaojing, Clarke, Jason C, Peterson, Kevin A, Denegre, James, Schneider, Michael, Sussman, Caroline R, Sunde, Lone, Lildballe, Dorte L, Hertz, Jens Michael, Cornell, Robert A, Murray, Stephen A, Manak, J Robert

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Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement von Skakkebæk, Anne, Moore, Philip J, Pedersen, Anders Degn, Bojesen, Anders, Kristensen, Maria Krarup, Fedder, Jens, Hertz, Jens Michael, Østergaard, John R, Wallentin, Mikkel, Gravholt, Claus Højbjerg

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Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women von Mengel-From, Jonas, Lindahl-Jacobsen, Rune, Nygaard, Marianne, Soerensen, Mette, Ørstavik, Karen Helene, Hertz, Jens Michael, Andersen-Ranberg, Karen, Tan, Qihua, Christensen, Kaare

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A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature von Mathorne, Stine Westergaard, Sørensen, Kristina, Fagerberg, Christina, Bode, Matthias, Hertz, Jens Michael

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Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing von van Kuilenburg, André B.P., Meijer, Judith, Maurer, Dirk, Dobritzsch, Doreen, Meinsma, Rutger, Los, Maartje, Knegt, Lia C., Zoetekouw, Lida, Jansen, Rob L.H., Dezentjé, Vincent, van Huis-Tanja, Lieke H., van Kampen, Roel J.W., Hertz, Jens Michael, Hennekam, Raoul C.M.

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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform von Vaeth, Signe, Christensen, Rikke, Dunø, Morten, Lildballe, Dorte Launholt, Thorsen, Kasper, Vissing, John, Svenstrup, Kirsten, Hertz, Jens Michael, Andersen, Henning, Jensen, Uffe Birk

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Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile von Skakkebæk, Anne, Gravholt, Claus Højbjerg, Rasmussen, Peter Mondrup, Bojesen, Anders, Jensen, Jens Søndergaard, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Ostergaard, John Rosendahl, Pedersen, Anders Degn, Wallentin, Mikkel

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Manifestations of Gorlin-Goltz syndrome von Larsen, Anne Kristine, Mikkelsen, Dorthe Bisgaard, Hertz, Jens Michael, Bygum, Anette

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Ichthyosis with Confetti Inherited from a Mosaic Father von Pallesen, Kristine A U, Clemmensen, Ole, Fischer, Judith, Hertz, Jens Michael, Bygum, Anette

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Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome von Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael

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Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation von Wallentin, Mikkel, Skakkebæk, Anne, Bojesen, Anders, Fedder, Jens, Laurberg, Peter, Østergaard, John R, Hertz, Jens Michael, Pedersen, Anders Degn, Gravholt, Claus Højbjerg

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Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9] von Skakkebæk, Anne, Gravholt, Claus Højbjerg, Rasmussen, Peter Mondrup, Bojesen, Anders, Jensen, Jens Søndergaard, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Østergaard, John Rosendahl, Pedersen, Anders Degn, Wallentin, Mikkel

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Anomalies of tooth formation in hypohidrotic ectodermal dysplasia von LEXNER, MICHALA O., BARDOW, ALLAN, HERTZ, JENS MICHAEL, NIELSEN, LIS A., KREIBORG, SVEN

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Clinical utility gene card for: Alport syndrome - update 2014 von Hertz, Jens Michael, Thomassen, Mads, Storey, Helen, Flinter, Frances

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Whole saliva in X-linked hypohidrotic ectodermal dysplasia von LEXNER, MICHALA ORON, BARDOW, ALLAN, HERTZ, JENS MICHAEL, ALMER, LIS, NAUNTOFTE, BIRGITTE, KREIBORG, SVEN

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The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity von Fickelscher, Ina, Liehr, Thomas, Watts, Kathryn, Bryant, Victoria, Barber, John C.K., Heidemann, Simone, Siebert, Reiner, Hertz, Jens Michael, Tümer, Zeynep, Simon Thomas, N.

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DNA hypermethylation and differential gene expression associated with Klinefelter syndrome von Skakkebæk, Anne, Nielsen, Morten Muhlig, Trolle, Christian, Vang, Søren, Hornshøj, Henrik, Hedegaard, Jakob, Wallentin, Mikkel, Bojesen, Anders, Hertz, Jens Michael, Fedder, Jens, Østergaard, John Rosendahl, Pedersen, Jakob Skou, Gravholt, Claus Højbjerg

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Guidelines for Genetic Testing and Management of Alport Syndrome von Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances

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