Search Results - Budde, Birgit

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  1. 1
    Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity

    Genes from Chagas Susceptibility Loci That Are Differentially Expressed in T. cruzi-Resistant Mice Are Candidates Accounting for Impaired Immunity by Graefe, Sebastian E. B., Streichert, Thomas, Budde, Birgit S., Nürnberg, Peter, Steeg, Christiane, Müller-Myhsok, Bertram, Fleischer, Bernhard

    Published 2006
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  2. 2
    A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

    A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia by Stange, Katja, Désir, Julie, Kakar, Naseebullah, Mueller, Thomas D., Budde, Birgit S., Gordon, Christopher T., Horn, Denise, Seemann, Petra, Borck, Guntram

    Published 2015
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  3. 3
    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene by Oziębło, Dominika, Sarosiak, Anna, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grażyna, Di Donato, Nataliya, Bolz, Hanno J., Nürnberg, Peter, Skarżyński, Henryk, Ołdak, Monika

    Published 2019
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  4. 4
    Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

    Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene by Budde, Birgit S., Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, Brömsen, Jürgen, Dermintzoglou, Anastassia, Wieczorek, Marcus, May, Erik, Kirst, Elisabeth, Selignow, Carmen, Rackebrandt, Kirsten, Müller, Melanie, Goody, Roger S., Vosberg, Hans-Peter, Nürnberg, Peter, Scheffold, Thomas

    Published 2007
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  5. 5
    CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly

    CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly by Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah, Müller, Rolf, Altmüller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad, Malik, Naveed Altaf, Nürnberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid, Noegel, Angelika A.

    Published 2016
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  6. 6
    A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

    A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family by Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad, Khan, Ayaz, Ali, Zafar, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf, Haque, Saif ul, Altmüller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood, Nürnberg, Peter

    Published 2021
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  7. 7
    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

    Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin by Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan

    Published 2008
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  8. 8
    Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

    Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ 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, Thiele, Holger, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

    Published 2021
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  9. 9
    An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

    An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan by Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

    Published 2020
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  10. 10
    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

    Published 2022
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  11. 11
    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies by Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan

    Published 2021
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  12. 12
    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

    Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome by Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung, Warejko, Jillian K., Hermle, Tobias, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K., Hildebrandt, Friedhelm

    Published 2018
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