Pesquisa | Biblioteca Virtual em Saúde

1.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms, Frederike L; Kloth, Katja; Bley, Annette; Denecke, Jonas; Santer, René; Lessel, Davor; Hempel, Maja; Kutsche, Kerstin.

Am J Hum Genet; 103(4): 579-591, 2018 Oct 04.

Artigo em Inglês | MEDLINE | ID: mdl-30290153

2.

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Danyukova, Tatyana; Ludwig, Nataniel F; Velho, Renata V; Harms, Frederike L; Günes, Nilay; Tidow, Henning; Schwartz, Ida V; Tüysüz, Beyhan; Pohl, Sandra.

Hum Mutat; 2019 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-31579991

3.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho, Renata Voltolini; Harms, Frederike L; Danyukova, Tatyana; Ludwig, Nataniel F; Friez, Michael J; Cathey, Sara S; Filocamo, Mirella; Tappino, Barbara; Günes, Nilay; Tüysüz, Beyhan; Tylee, Karen L; Brammeier, Kathryn L; Heptinstall, Lesley; Oussoren, Esmee; van der Ploeg, Ans T; Petersen, Christine; Alves, Sandra; Saavedra, Gloria Durán; Schwartz, Ida V; Muschol, Nicole; Kutsche, Kerstin; Pohl, Sandra.

Hum Mutat; 40(7): 842-864, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-30882951

4.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Kloth, Katja; Bierhals, Tatjana; Johannsen, Jessika; Harms, Frederike L; Juusola, Jane; Johnson, Mark C; Grange, Dorothy K; Kutsche, Kerstin.

Hum Genet; 138(6): 625-634, 2019 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-30963242

5.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

Karaca, Ender; Posey, Jennifer E; Bostwick, Bret; Liu, Pengfei; Gezdirici, Alper; Yesil, Gozde; Coban Akdemir, Zeynep; Bayram, Yavuz; Harms, Frederike L; Meinecke, Peter; Alawi, Malik; Bacino, Carlos A; Sutton, V Reid; Kortüm, Fanny; Lupski, James R.

Am J Med Genet A; 179(10): 2056-2066, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31407851

6.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Piard, Juliette; Umanah, George K Essien; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin.

Brain; 2018 Jan 30.

Artigo em Inglês | MEDLINE | ID: mdl-29390050

7.

Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4.

Schuette, Verena; Embgenbroich, Maria; Ulas, Thomas; Welz, Meike; Schulte-Schrepping, Jonas; Draffehn, Astrid M; Quast, Thomas; Koch, Katharina; Nehring, Melanie; König, Jessica; Zweynert, Annegret; Harms, Frederike L; Steiner, Nancy; Limmer, Andreas; Förster, Irmgard; Berberich-Siebelt, Friederike; Knolle, Percy A; Wohlleber, Dirk; Kolanus, Waldemar; Beyer, Marc; Schultze, Joachim L; Burgdorf, Sven.

Proc Natl Acad Sci U S A; 113(38): 10649-54, 2016 09 20.

Artigo em Inglês | MEDLINE | ID: mdl-27601670

8.

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Harms, Frederike L; Nampoothiri, Sheela; Anazi, Shams; Yesodharan, Dhanya; Alawi, Malik; Kutsche, Kerstin; Alkuraya, Fowzan S.

Am J Med Genet A; 176(2): 477-482, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29271567

9.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Harms, Frederike L; Alawi, Malik; Amor, David J; Tan, Tiong Y; Cuturilo, Goran; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Kutsche, Kerstin; Zenker, Martin.

Am J Med Genet A; 176(2): 470-476, 2018 02.

Artigo em Inglês | MEDLINE | ID: mdl-29271604

10.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe, Steffen; Harms, Frederike L; Parrini, Elena; Montomoli, Martino; Mütze, Ulrike; Helbig, Katherine L; Polster, Tilman; Albrecht, Beate; Bernbeck, Ulrich; van Binsbergen, Ellen; Biskup, Saskia; Burglen, Lydie; Denecke, Jonas; Heron, Bénédicte; Heyne, Henrike O; Hoffmann, Georg F; Hornemann, Frauke; Matsushige, Takeshi; Matsuura, Ryuki; Kato, Mitsuhiro; Korenke, G Christoph; Kuechler, Alma; Lämmer, Constanze; Merkenschlager, Andreas; Mignot, Cyril; Ruf, Susanne; Nakashima, Mitsuko; Saitsu, Hirotomo; Stamberger, Hannah; Pisano, Tiziana; Tohyama, Jun; Weckhuysen, Sarah; Werckx, Wendy; Wickert, Julia; Mari, Francesco; Verbeek, Nienke E; Møller, Rikke S; Koeleman, Bobby; Matsumoto, Naomichi; Dobyns, William B; Battaglia, Domenica; Lemke, Johannes R; Kutsche, Kerstin; Guerrini, Renzo.

Brain; 140(9): 2322-2336, 2017 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-29050398

11.

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome.

Shukla, Anju; Hebbar, Malavika; Harms, Frederike L; Kadavigere, Rajagopal; Girisha, Katta M; Kutsche, Kerstin.

Am J Med Genet A; 170(11): 2998-3003, 2016 11.

Artigo em Inglês | MEDLINE | ID: mdl-27191798

12.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Piard, Juliette; Essien Umanah, George K; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin.

Brain; 141(6): e50, 2018 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-29659731

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