Búsqueda | OPS/OMS Uruguay

1.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico C; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar I; Jimenez Heredia, Raul; Harms, Frederike L; Alavi, Samin; Alsina, Laia; Sanchez Moreno, Paula; Ávila Polo, Rainiero; Cabrera-Pérez, Rocío; Kostel Bal, Sevgi; Pfajfer, Laurène; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Domínguez Conde, Cecilia; Platzer, René; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han G; Nooitgedagt-Frons, Judith E; Iglesias, Estíbaliz; Deyà-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Jörg; Bock, Christoph; Huppa, Johannes B; Pickl, Winfried F; Distel, Martin; Yoder, Jeffrey A; Traver, David; Engelhardt, Karin R; Linden, Tobias; Kager, Leo; Hannich, J Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin.

N Engl J Med ; 389(6): 527-539, 2023 Aug 10.

Artículo en Inglés | MEDLINE | ID: mdl-37342957

2.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.

Harms, Frederike L; Weiss, Deike; Lisfeld, Jasmin; Alawi, Malik; Kutsche, Kerstin.

Neurogenetics ; 24(3): 171-180, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37039969

3.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.

Hecher, Laura; Harms, Frederike L; Lisfeld, Jasmin; Alawi, Malik; Denecke, Jonas; Kutsche, Kerstin.

Neurogenetics ; 24(2): 79-93, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36653678

4.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl^-/H⁺-Exchanger, Causes Early-Onset Neurodegeneration.

Polovitskaya, Maya M; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L; Cole, F Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J.

Am J Hum Genet ; 107(6): 1062-1077, 2020 12 03.

Artículo en Inglés | MEDLINE | ID: mdl-33217309

5.

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Harms, Frederike L; Dingemans, Alexander J M; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Müller, Christian; Niermeijer, Jikke-Mien F; Fischer, Jan; Jahn, Arne; Hübner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M S; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M; de Vries, Bert B A; Kutsche, Kerstin.

Genet Med ; 25(10): 100927, 2023 10.

Artículo en Inglés | MEDLINE | ID: mdl-37422718

6.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

von Elsner, Leonie; Chai, Guoliang; Schneeberger, Pauline E; Harms, Frederike L; Casar, Christian; Qi, Minyue; Alawi, Malik; Abdel-Salam, Ghada M H; Zaki, Maha S; Arndt, Florian; Yang, Xiaoxu; Stanley, Valentina; Hempel, Maja; Gleeson, Joseph G; Kutsche, Kerstin.

Brain ; 145(4): 1551-1563, 2022 05 24.

Artículo en Inglés | MEDLINE | ID: mdl-34694367

7.

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.

Abdalla, Ebtesam; Alawi, Malik; Meinecke, Peter; Kutsche, Kerstin; Harms, Frederike L.

Am J Med Genet A ; 188(8): 2448-2453, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35451546

8.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

Melo, Uirá Souto; Piard, Juliette; Fischer-Zirnsak, Björn; Klever, Marius-Konstantin; Schöpflin, Robert; Mensah, Martin Atta; Holtgrewe, Manuel; Arbez-Gindre, Francine; Martin, Alain; Guigue, Virginie; Gaillard, Dominique; Landais, Emilie; Roze, Virginie; Kremer, Valerie; Ramanah, Rajeev; Cabrol, Christelle; Harms, Frederike L; Kornak, Uwe; Spielmann, Malte; Mundlos, Stefan; Van Maldergem, Lionel.

Hum Genet ; 140(10): 1459-1469, 2021 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-34436670

9.

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 10 04.

Artículo en Inglés | MEDLINE | ID: mdl-30290153

10.

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 ; 41(1): 133-139, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31579991

11.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

Harms, Frederike L; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P; Nampoothiri, Sheela; Kutsche, Kerstin.

Hum Mutat ; 41(9): 1645-1661, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32623794

12.

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.

Artículo en Inglés | MEDLINE | ID: mdl-30882951

13.

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.

Artículo en Inglés | MEDLINE | ID: mdl-30963242

14.

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 10.

Artículo en Inglés | MEDLINE | ID: mdl-31407851

15.

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 ; 141(3): 651-661, 2018 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-29390050

16.

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.

Artículo en Inglés | MEDLINE | ID: mdl-27601670

17.

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Harms, Frederike L; Dingemans, Alexander J M; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Müller, Christian; Niermeijer, Jikke-Mien F; Fischer, Jan; Jahn, Arne; Hübner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M S; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M; de Vries, Bert B A; Kutsche, Kerstin.

Genet Med ; 25(11): 100964, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37728613

18.

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.

Artículo en Inglés | MEDLINE | ID: mdl-29271567

19.

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.

Artículo en Inglés | MEDLINE | ID: mdl-29271604

20.

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.

Artículo en Inglés | MEDLINE | ID: mdl-29050398

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Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl^-/H⁺-Exchanger, Causes Early-Onset Neurodegeneration.

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

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

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.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

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

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

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

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

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

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

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

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.

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