Works by Höhne, Wolfgang

Results: 35
    1
    2
    3
    4
    5

    Modifier Genes in Microcephaly: A Report on WDR62 , CEP63 , RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

    Published in:
    Genes, 2021, v. 12, n. 5, p. 731, doi. 10.3390/genes12050731
    By:
    • Makhdoom, Ehtisham Ul Haq;
    • Waseem, Syeda Seema;
    • Iqbal, Maria;
    • Abdullah, Uzma;
    • Hussain, Ghulam;
    • Asif, Maria;
    • Budde, Birgit;
    • Höhne, Wolfgang;
    • Tinschert, Sigrid;
    • Saadi, Saadia Maryam;
    • Yousaf, Hammad;
    • Ali, Zafar;
    • Fatima, Ambrin;
    • Kaygusuz, Emrah;
    • Khan, Ayaz;
    • Jameel, Muhammad;
    • Khan, Sheraz;
    • Tariq, Muhammad;
    • Anjum, Iram;
    • Altmüller, Janine
    Publication type:
    Article
    6

    Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article
    7

    Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
    By:
    • Rutsch, Frank;
    • Gailus, Susann;
    • Miousse, Isabelle R.;
    • Suormala, Terttu;
    • Sagné, Corinne;
    • Toliat, Mohammad Reza;
    • Nürnberg, Gudrun;
    • Wittkampf, Tanja;
    • Buers, Insa;
    • Sharifi, Azita;
    • Stucki, Martin;
    • Becker, Christian;
    • Baumgartner, Matthias;
    • Robenek, Horst;
    • Marquardt, Thorsten;
    • Höhne, Wolfgang;
    • Gasnier, Bruno;
    • Rosenblatt, David S.;
    • Fowler, Brian;
    • Nürnberg, Peter
    Publication type:
    Article
    8

    tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

    Published in:
    Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
    By:
    • Buddle, Birgit S;
    • Namavar, Yasmin;
    • Barth, Peter G.;
    • Poll-The, Bwee Tien;
    • Nürnberg, Gudrub;
    • Becker, Christian;
    • van Ruissen, Fred;
    • Weterman, Marian A. J.;
    • Fluiter, Kees;
    • te Beek, Erik T.;
    • Aronica, Eleonora;
    • van der Knaap, Marj S.;
    • Höhne, Wolfgang;
    • Toliat, Mohammad Reza;
    • Crow, Yanick J.;
    • Steinlin, Maja;
    • Voit, Thomas;
    • Roelens, Filip;
    • Brussel, Wim;
    • Brockmann, Knut
    Publication type:
    Article
    9

    Krogh's principle for a new era.

    Published in:
    2003
    By:
    • Vaingankar, Sucheta;
    • Toliat, Mohammad R.;
    • Suk, Anita;
    • Höhne, Wolfgang;
    • Schauer, Galen;
    • Lehmann, Mandy;
    • Roscioli, Tony;
    • Schnabel, Dirk;
    • Epplen, Jörg T.;
    • Knisley, Alex;
    • Superti-Furga, Andrea;
    • McGill, James;
    • Filippone, Marco;
    • Sinaiko, Alan R.;
    • Vallance, Hillary;
    • Hinrichs, Bernd;
    • Smith, Wendy
    Publication type:
    Editorial
    10

    Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

    Published in:
    Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
    By:
    • Rutsch, Frank;
    • Ruf, Nico;
    • Vaingankar, Sucheta;
    • Toliat, Mohammed R.;
    • Suk, Anita;
    • Höhne, Wolfgang;
    • Schauer, Galen;
    • Lehmann, Mandy;
    • Roscioli, Tony;
    • Schnabel, Dirk;
    • Epplen, Jörg T.;
    • Knisely, Alex;
    • Superti-Furga, Andrea;
    • McGill, James;
    • Filippone, Marco;
    • Sinaiko, Alan R.;
    • Vallance, Hillary;
    • Hinrichs, Bernd;
    • Smith, Wendy
    Publication type:
    Article
    11

    Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

    Published in:
    Nature Genetics, 2001, v. 28, n. 1, p. 37, doi. 10.1038/ng0501-37
    By:
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Chandler, David;
    • Höhne, Wolfgang;
    • Cunningham, Michael L.;
    • Ritter, Heide;
    • Leschik, Gundula;
    • Uhlmann, Karen;
    • Mischung, Claudia;
    • Harrop, Karen;
    • Goldblatt, Jack;
    • Borochowitz, Zvi U.;
    • Kotzot, Dieter;
    • Westermann, Frank;
    • Mundlos, Stefan;
    • Braun, Hans-Steffen;
    • Laing, Nigel;
    • Tinschert, Sigrid
    Publication type:
    Article
    12
    13

    A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
    By:
    • Khan, Muzammil A.;
    • Rupp, Verena M.;
    • Orpinell, Meritxell;
    • Hussain, Muhammad S.;
    • Altmüller, Janine;
    • Steinmetz, Michel O.;
    • Enzinger, Christian;
    • Thiele, Holger;
    • Höhne, Wolfgang;
    • Nürnberg, Gudrun;
    • Baig, Shahid M.;
    • Ansar, Muhammad;
    • Nürnberg, Peter;
    • Vincent, John B.;
    • Speicher, Michael R.;
    • Gönczy, Pierre;
    • Windpassinger, Christian
    Publication type:
    Article
    14

    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374
    By:
    • Hussain, Muhammad S.;
    • Baig, Shahid M.;
    • Neumann, Sascha;
    • Peche, Vivek S.;
    • Szczepanski, Sandra;
    • Nürnberg, Gudrun;
    • Tariq, Muhammad;
    • Jameel, Muhammad;
    • Khan, Tahir N.;
    • Fatima, Ambrin;
    • Malik, Naveed A.;
    • Ahmad, Ilyas;
    • Altmüller, Janine;
    • Frommolt, Peter;
    • Thiele, Holger;
    • Höhne, Wolfgang;
    • Yigit, Gökhan;
    • Wollnik, Bernd;
    • Neubauer, Bernd A.;
    • Nürnberg, Peter
    Publication type:
    Article
    15
    16

    Intellectual Disability and Hemizygous GPD 2 Mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
    By:
    • Barge‐Schaapveld, Daniela Q.C.M.;
    • Ofman, Rob;
    • Knegt, Alida C.;
    • Alders, Mariëlle;
    • Höhne, Wolfgang;
    • Kemp, Stephan;
    • Hennekam, Raoul C.M.
    Publication type:
    Article
    17

    SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

    Published in:
    2019
    By:
    • Jurkute, Neringa;
    • Leu, Costin;
    • Pogoda, Hans‐Martin;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Nürnberg, Gudrun;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Motameny, Susanne;
    • Toliat, Mohammad Reza;
    • Powell, Kate;
    • Höhne, Wolfgang;
    • Michaelides, Michel;
    • Webster, Andrew R.;
    • Moore, Anthony T.;
    • Hammerschmidt, Matthias;
    • Nürnberg, Peter;
    • Yu‐Wai‐Man, Patrick;
    • Votruba, Marcela;
    • Pogoda, Hans-Martin
    Publication type:
    journal article
    18

    Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

    Published in:
    2017
    By:
    • Moawia, Abubakar;
    • Shaheen, Ranad;
    • Rasool, Sajida;
    • Waseem, Syeda Seema;
    • Ewida, Nour;
    • Budde, Birgit;
    • Kawalia, Amit;
    • Motameny, Susanne;
    • Khan, Kamal;
    • Fatima, Ambrin;
    • Jameel, Muhammad;
    • Ullah, Farid;
    • Akram, Talia;
    • Ali, Zafar;
    • Abdullah, Uzma;
    • Irshad, Saba;
    • Höhne, Wolfgang;
    • Noegel, Angelika Anna;
    • Al‐Owain, Mohammed;
    • Hörtnagel, Konstanze
    Publication type:
    journal article
    19
    20
    21
    22
    23
    24
    25
    26
    27
    28
    29
    30
    31
    32
    33
    34
    35