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Correction: HDL as a target in the treatment of atherosclerotic cardiovascular disease.
Published in:
2005
By:
- Linsel-Nitschke, Patrick;
- Tall, Alan R.
Publication type:
Correction Notice
HDL as a target in the treatment of atherosclerotic cardiovascular disease.
Published in:
Nature Reviews Drug Discovery, 2005, v. 4, n. 3, p. 193, doi. 10.1038/nrd1658
By:
- Linsel-Nitschke, Patrick;
- Tall, Alan R.
Publication type:
Article
A New TRPV3 Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia.
Published in:
JAMA Dermatology, 2014, v. 150, n. 3, p. 303, doi. 10.1001/jamadermatol.2013.8709
By:
- Duchatelet, Sabine;
- Pruvost, Solenn;
- de Veer, Simon;
- Fraitag, Sylvie;
- Nitschké, Patrick;
- Bole-Feysot, Christine;
- Bodemer, Christine;
- Hovnanian, Alain
Publication type:
Article
Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31264-w
By:
- Dos Reis, Raphaël;
- Kornobis, Etienne;
- Pereira, Alyssa;
- Tores, Frederic;
- Carrasco, Judit;
- Gautier, Candice;
- Jahannault-Talignani, Céline;
- Nitschké, Patrick;
- Muchardt, Christian;
- Schlosser, Andreas;
- Maric, Hans Michael;
- Ango, Fabrice;
- Allemand, Eric
Publication type:
Article
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809569
By:
- Stoupa, Athanasia;
- Adam, Frédéric;
- Kariyawasam, Dulanjalee;
- Strassel, Catherine;
- Gawade, Sanjay;
- Szinnai, Gabor;
- Kauskot, Alexandre;
- Lasne, Dominique;
- Janke, Carsten;
- Natarajan, Kathiresan;
- Schmitt, Alain;
- Bole‐Feysot, Christine;
- Nitschke, Patrick;
- Léger, Juliane;
- Jabot‐Hanin, Fabienne;
- Tores, Frédéric;
- Michel, Anita;
- Munnich, Arnold;
- Besmond, Claude;
- Scharfmann, Raphaël
Publication type:
Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Published in:
2016
By:
- Megahed, Hisham;
- Nicouleau, Michaël;
- Barcia, Giulia;
- Medina-Cano, Daniel;
- Siquier-Pernet, Karine;
- Bole-Feysot, Christine;
- Parisot, Mélanie;
- Masson, Cécile;
- Nitschké, Patrick;
- Rio, Marlène;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Cantagrel, Vincent
Publication type:
journal article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
2013
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
journal article
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
By:
- Boutaud, Lucile;
- Ruzzenente, Benedetta;
- Tessier, Aude;
- Anselem, Olivia;
- Pannier, Emmanuelle;
- Grotto, Sarah;
- Talhi, Naïma;
- Amram, Daniel;
- Willems, Marjolaine;
- Wells, Constance;
- Blanchet, Patricia;
- Musizzano, Yuri;
- Jauny, Clémence;
- Nitschke, Patrick;
- Bole-Feysot, Christine;
- Bessières, Bettina;
- Salhi, Houria;
- Achaiaa, Amale;
- Metodiev, Metodi D;
- Razavi, Ferechte
Publication type:
Article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Published in:
2018
By:
- Chemin, Jean;
- Siquier-Pernet, Karine;
- Nicouleau, Michaël;
- Barcia, Giulia;
- Ahmad, Ali;
- Medina-Cano, Daniel;
- Hanein, Sylvain;
- Altin, Nami;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Fourage, Cécile;
- Nitschké, Patrick;
- Thevenon, Julien;
- Rio, Marlène;
- Blanc, Pierre;
- vidal, Céline;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Lyonnet, Stanislas
Publication type:
journal article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Published in:
2017
By:
- Cavallin, Mara;
- Rujano, Maria A.;
- Bednarek, Nathalie;
- Medina-Cano, Daniel;
- Bernabe Gelot, Antoinette;
- Drunat, Severine;
- Maillard, Camille;
- Garfa-Traore, Meriem;
- Bole, Christine;
- Nitschké, Patrick;
- Beneteau, Claire;
- Besnard, Thomas;
- Cogné, Benjamin;
- Eveillard, Marion;
- Kuster, Alice;
- Poirier, Karine;
- Verloes, Alain;
- Martinovic, Jelena;
- Bidat, Laurent;
- Rio, Marlene
Publication type:
journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Published in:
2016
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Rastetter, Agnès;
- Boutaud, Lucile;
- Heide, Solveig;
- Billette, Thierry;
- Doummar, Diane;
- Garel, Catherine;
- Afenjar, Alexandra;
- Jacquette, Aurélia;
- Lacombe, Didier;
- Verloes, Alain;
- Bole-Feysot, Christine;
- Nitschké, Patrick;
- Masson, Cécile;
- Faudet, Anne;
- Lesne, Fabien;
- Bienvenu, Thierry;
- Alby, Caroline;
- Attié-Bitach, Tania
Publication type:
journal article
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Published in:
2018
By:
- Gonçalves, Sara;
- Patat, Julie;
- Guida, Maria Clara;
- Lachaussée, Noelle;
- Arrondel, Christelle;
- Helmstädter, Martin;
- Boyer, Olivia;
- Gribouval, Olivier;
- Gubler, Marie-Claire;
- Mollet, Geraldine;
- Rio, Marlène;
- Charbit, Marina;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Huber, Tobias B.;
- Wheeler, Patricia G.;
- Haynes, Devon;
- Juusola, Jane;
- Villemeur, Thierry Billette de;
- Nava, Caroline
Publication type:
Correction Notice
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 12, p. 5516, doi. 10.1172/JCI79100
By:
- Jeremiah, Nadia;
- Neven, Bénédicte;
- Gentili, Matteo;
- Callebaut, Isabelle;
- Maschalidi, Sophia;
- Stolzenberg, Marie-Claude;
- Goudin, Nicolas;
- Frémond, Marie-Louis;
- Nitschke, Patrick;
- Molina, Thierry J.;
- Blanche, Stéphane;
- Picard, Capucine;
- Rice, Gillian I.;
- Crow, Yanick J.;
- Manel, Nicolas;
- Fischer, Alain;
- Bader-Meunier, Brigitte;
- Rieux-Laucat, Frédéric
Publication type:
Article
A human immunodeficiency caused by mutations in the PIK3R1 gene.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 3923, doi. 10.1172/JCI75746
By:
- Deau, Marie-Céline;
- Heurtier, Lucie;
- Frange, Pierre;
- Suarez, Felipe;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Cavazzana, Marina;
- Picard, Capucine;
- Durandy, Anne;
- Fischer, Alain;
- Kracker, Sven
Publication type:
Article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Published in:
2013
By:
- Ashraf, Shazia;
- Gee, Heon Yung;
- Woerner, Stephanie;
- Xie, Letian X;
- Vega-Warner, Virginia;
- Lovric, Svjetlana;
- Fang, Humphrey;
- Song, Xuewen;
- Cattran, Daniel C;
- Avila-Casado, Carmen;
- Paterson, Andrew D;
- Nitschké, Patrick;
- Bole-Feysot, Christine;
- Cochat, Pierre;
- Esteve-Rudd, Julian;
- Haberberger, Birgit;
- Allen, Susan J;
- Zhou, Weibin;
- Airik, Rannar;
- Otto, Edgar A
Publication type:
journal article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ<sub>10</sub> biosynthesis disruption.
Published in:
Journal of Clinical Investigation, 2013, v. 123, n. 12, p. 5179, doi. 10.1172/JCI69000
By:
- Ashraf, Shazia;
- Heon Yung Gee;
- Woerner, Stephanie;
- Letian X. Xie;
- Vega-Warner, Virginia;
- Lovric, Svjetlana;
- Humphrey Fang;
- Xuewen Song;
- Cattran, Daniel C.;
- Avila-Casado, Carmen;
- Paterson, Andrew D.;
- Nitschké, Patrick;
- Bole-Feysot, Christine;
- Cochat, Pierre;
- Esteve-Rudd, Julian;
- Haberberger, Birgit;
- Allen, Susan J.;
- Weibin Zhou;
- Airik, Rannar;
- Otto, Edgar A.
Publication type:
Article
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Published in:
2009
By:
- Côte, Marjorie;
- Ménager, Mickaël M.;
- Burgess, Agathe;
- Mahlaoui, Nizar;
- Picard, Capucine;
- Schaffner, Catherine;
- Al-Manjomi, Fahad;
- Al-Harbi, Musa;
- Alangari, Abdullah;
- Le Deist, Françoise;
- Gennery, Andrew R.;
- Prince, Nathalie;
- Cariou, Astrid;
- Nitschke, Patrick;
- Blank, Ulrich;
- El-Ghazali, Gehad;
- Ménasché, Gaël;
- Latour, Sylvain;
- Fischer, Alain;
- de Saint Basile, Geneviève
Publication type:
journal article
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Published in:
2023
By:
- Cogan, Guillaume;
- Bourgon, Nicolas;
- Borghese, Roxana;
- Julien, Emmanuel;
- Jaquette, Aurélia;
- Stos, Bertrand;
- Achaiaa, Amale;
- Chuon, Sophie;
- Nitschke, Patrick;
- Fourrage, Cécile;
- Stirnemann, Julien;
- Boutaud, Lucile;
- Attie‐Bitach, Tania
Publication type:
Case Study
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17337-2
By:
- Mouka, Aurélie;
- Arkoun, Brahim;
- Moison, Pauline;
- Drévillon, Loïc;
- Jarray, Rafika;
- Brisset, Sophie;
- Mayeur, Anne;
- Bouligand, Jérôme;
- Boland-Auge, Anne;
- Deleuze, Jean-François;
- Yates, Frank;
- Lemonnier, Thomas;
- Callier, Patrick;
- Duffourd, Yannis;
- Nitschke, Patrick;
- Ollivier, Emmanuelle;
- Bourdin, Arnaud;
- De Vos, John;
- Livera, Gabriel;
- Tachdjian, Gérard
Publication type:
Article
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1304, doi. 10.1002/ajmg.a.61151
By:
- Guimier, Anne;
- Gordon, Christopher T.;
- Hully, Marie;
- Blauwblomme, Thomas;
- Minard‐Colin, Véronique;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Oufadem, Myriam;
- Boddaert, Nathalie;
- Sarnacki, Sabine;
- Amiel, Jeanne
Publication type:
Article
Novel de novo <italic>ZBTB20</italic> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1091, doi. 10.1002/ajmg.a.38684
By:
- Alby, Caroline;
- Boutaud, Lucile;
- Bessières, Bettina;
- Serre, Valérie;
- Rio, Marlene;
- Cormier‐Daire, Valerie;
- de Oliveira, Judith;
- Ichkou, Amale;
- Mouthon, Linda;
- Gordon, Christopher T.;
- Bonnière, Maryse;
- Mechler, Charlotte;
- Nitschke, Patrick;
- Bole, Christine;
- Lyonnet, Stanislas;
- Bahi‐Buisson, Nadia;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Roth, Philippe;
- Ville, Yves
Publication type:
Article
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 181, doi. 10.1002/ajmg.a.38536
By:
- Gordon, Christopher T.;
- Chopra, Maya;
- Oufadem, Myriam;
- Alibeu, Olivier;
- Bras, Marc;
- Boddaert, Nathalie;
- Bole‐Feysot, Christine;
- Nitschké, Patrick;
- Abadie, Véronique;
- Lyonnet, Stanislas;
- Amiel, Jeanne
Publication type:
Article
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1908, doi. 10.1002/ajmg.a.37094
By:
- Thevenon, Julien;
- Michot, Caroline;
- Bole, Christine;
- Nitschke, Patrick;
- Nizon, Mathilde;
- Faivre, Laurence;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Bonnefont, Jean‐Paul;
- Portes, Vincent Des;
- Amiel, Jeanne
Publication type:
Article
Using Codon Usage to Predict Genes Origin: Is the Escherichia coli Outer Membrane a Patchwork of Products from Different Genomes?*.
Published in:
DNA Research, 1997, v. 4, n. 4, p. 257, doi. 10.1093/dnares/4.4.257
By:
- Guerdoux-Jamet, Pascale;
- Hénaut, Alain;
- Nitschké, Patrick;
- Danchin, Antoine
Publication type:
Article
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Published in:
Nature Genetics, 2015, v. 47, n. 11, p. 1260, doi. 10.1038/ng.3376
By:
- Guimier, Anne;
- Liu, Hui;
- Noll, Aaron;
- El Malti, Rajae;
- Smith, Laurie D;
- Jimenez, Gina;
- Miller, Neil A;
- Oufadem, Myriam;
- Moreau de Bellaing, Anne;
- Saunders, Carol J;
- Thiffault, Isabelle;
- Bole-Feysot, Christine;
- Cooley, Linda D;
- Farrow, Emily G;
- Masson, Cécile;
- Nitschké, Patrick;
- Lyonnet, Stanislas;
- de Pontual, Loic;
- Bonnet, Damien;
- Kingsmore, Stephen F
Publication type:
Article
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
By:
- Barcia, Giulia;
- Fleming, Matthew R;
- Deligniere, Aline;
- Gazula, Valeswara-Rao;
- Brown, Maile R;
- Langouet, Maeva;
- Chen, Haijun;
- Kronengold, Jack;
- Abhyankar, Avinash;
- Cilio, Roberta;
- Nitschke, Patrick;
- Kaminska, Anna;
- Boddaert, Nathalie;
- Casanova, Jean-Laurent;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Dulac, Olivier;
- Kaczmarek, Leonard K;
- Colleaux, Laurence;
- Nabbout, Rima
Publication type:
Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Published in:
Nature Genetics, 2012, v. 44, n. 9, p. 975, doi. 10.1038/ng.2357
By:
- Perrault, Isabelle;
- Hanein, Sylvain;
- Zanlonghi, Xavier;
- Serre, Valérie;
- Nicouleau, Michael;
- Defoort-Delhemmes, Sabine;
- Delphin, Nathalie;
- Fares-Taie, Lucas;
- Gerber, Sylvie;
- Xerri, Olivia;
- Edelson, Catherine;
- Goldenberg, Alice;
- Duncombe, Alice;
- Le Meur, Gylène;
- Hamel, Christian;
- Silva, Eduardo;
- Nitschke, Patrick;
- Calvas, Patrick;
- Munnich, Arnold;
- Roche, Olivier
Publication type:
Article
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Published in:
Nature Genetics, 2011, v. 43, n. 6, p. 601, doi. 10.1038/ng.826
By:
- Putoux, Audrey;
- Thomas, Sophie;
- Coene, Karlien L. M.;
- Davis, Erica E.;
- Alanay, Yasemin;
- Ogur, Gönül;
- Uz, Elif;
- Buzas, Daniela;
- Gomes, Céline;
- Patrier, Sophie;
- Bennett, Christopher L.;
- Elkhartoufi, Nadia;
- Frison, Marie-Hélène Saint;
- Rigonnot, Luc;
- Joyé, Nicole;
- Pruvost, Solenn;
- Utine, Gulen Eda;
- Boduroglu, Koray;
- Nitschke, Patrick;
- Fertitta, Laura
Publication type:
Article
New susceptibility locus for coronary artery disease on chromosome 3q22.3.
Published in:
Nature Genetics, 2009, v. 41, n. 3, p. 280, doi. 10.1038/ng.307
By:
- Erdmann, Jeanette;
- Groβhennig, Anika;
- Braund, Peter S.;
- König, Inke R.;
- Hengstenberg, Christian;
- Hall, Alistair S.;
- Linsel-Nitschke, Patrick;
- Kathiresan, Sekar;
- Wright, Ben;
- Trögouët, David-Alexandre;
- Cambien, Francois;
- Bruse, Petra;
- Aherrahrou, Zouhair;
- Wagner, Arnika K.;
- Stark, Klaus;
- Schwartz, Stephen M.;
- Salomaa, Veikko;
- Elosua, Roberto;
- Melander, Olle;
- Voight, Benjamin F.
Publication type:
Article
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease.
Published in:
Nature Genetics, 2009, v. 41, n. 3, p. 283, doi. 10.1038/ng.314
By:
- Trégoueët, David-Alexandre;
- König, Inke R.;
- Erdmann, Jeanette;
- Munteanu, Alexandru;
- Braund, Peter S.;
- Hall, Alistair S.;
- Groβhennig, Anika;
- Linsel-Nitschke, Patrick;
- Perret, Claire;
- DeSuremain, Maylis;
- Meitinger, Thomas;
- Wright, Ben J.;
- Preuss, Michael;
- Balmforth, Anthony J.;
- Ball, Stephen G.;
- Meisinger, Christa;
- Germain, Cécile;
- Evans, Alun;
- Arveiler, Dominique;
- Luc, Gérald
Publication type:
Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Published in:
PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007386
By:
- Gonçalves, Sara;
- Patat, Julie;
- Guida, Maria Clara;
- Lachaussée, Noelle;
- Arrondel, Christelle;
- Helmstädter, Martin;
- Boyer, Olivia;
- Gribouval, Olivier;
- Gubler, Marie-Claire;
- Mollet, Geraldine;
- Rio, Marlène;
- Charbit, Marina;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Huber, Tobias B.;
- Wheeler, Patricia G.;
- Haynes, Devon;
- Juusola, Jane;
- Billette de Villemeur, Thierry;
- Nava, Caroline
Publication type:
Article
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Published in:
Scientific Reports, 2015, p. 8666, doi. 10.1038/ncomms9666
By:
- Bizet, Albane A.;
- Becker-Heck, Anita;
- Ryan, Rebecca;
- Weber, Kristina;
- Filhol, Emilie;
- Krug, Pauline;
- Halbritter, Jan;
- Delous, Marion;
- Lasbennes, Marie-Christine;
- Linghu, Bolan;
- Oakeley, Edward J.;
- Zarhrate, Mohammed;
- Nitschké, Patrick;
- Garfa-Traore, Meriem;
- Serluca, Fabrizio;
- Yang, Fan;
- Bouwmeester, Tewis;
- Pinson, Lucile;
- Cassuto, Elisabeth;
- Dubot, Philippe
Publication type:
Article
Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease--A Mendelian Randomisation Study.
Published in:
PLoS ONE, 2008, v. 3, n. 8, p. 1, doi. 10.1371/journal.pone.0002986
By:
- Linsel-Nitschke, Patrick;
- Götz, Anika;
- Erdmann, Jeanette;
- Braenne, Ingrid;
- Braund, Peter;
- Hengstenberg, Christian;
- Stark, Klaus;
- Fischer, Marcus;
- Schreiber, Stefan;
- El Mokhtari, Nour Eddine;
- Schaefer, Arne;
- Schrezenmeier, Jürgen;
- Rubin, Diana;
- Hinney, Anke;
- Reinehr, Thomas;
- Roth, Christian;
- Ortlepp, Jan;
- Hanrath, Peter;
- Hall, Alistair S.;
- Mangino, Massimo
Publication type:
Article
Genetic Causes of Myocardial Infarction: New Insights from Genome-Wide Association Studies.
Published in:
Deutsches Ärzteblatt International, 2010, v. 107, n. 40, p. 2
By:
- Erdmann, Jeanette;
- Linsel-Nitschke, Patrick;
- Schunkert, Heribert
Publication type:
Article
The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol.
Published in:
Journal of Molecular Medicine, 2008, v. 86, n. 11, p. 1233, doi. 10.1007/s00109-008-0387-2
By:
- Samani, Nilesh;
- Braund, Peter;
- Erdmann, Jeanette;
- Götz, Anika;
- Tomaszewski, Maciej;
- Linsel-Nitschke, Patrick;
- Hajat, Cother;
- Mangino, Massimo;
- Hengstenberg, Christian;
- Stark, Klaus;
- Ziegler, Andreas;
- Caulfield, Mark;
- Burton, Paul;
- Schunkert, Heribert;
- Tobin, Martin
Publication type:
Article
Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction.
Published in:
Journal of Molecular Medicine, 2008, v. 86, n. 10, p. 1163, doi. 10.1007/s00109-008-0376-5
By:
- Wolfgang Lieb;
- Zeller, Tanja;
- Mangino, Massimo;
- Götz, Anika;
- Braund, Peter;
- Wenzel, Juergen;
- Horn, Christian;
- Proust, Carole;
- Linsel-Nitschke, Patrick;
- Amouyel, Philippe;
- Bruse, Petra;
- Arveiler, Dominique;
- König, Inke;
- Ferrières, Jean;
- Ziegler, Andreas;
- Balmforth, Anthony;
- Evans, Alun;
- Ducimetière, Pierre;
- Cambien, Francois;
- Hengstenberg, Christian
Publication type:
Article
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Published in:
Birth Defects Research, 2018, v. 110, n. 6, p. 538, doi. 10.1002/bdr2.1191
By:
- Bacrot, Séverine;
- Mechler, Charlotte;
- Talhi, Naima;
- Martin-Coignard, Dominique;
- Roth, Philippe;
- Michot, Caroline;
- Ichkou, Amale;
- Alibeu, Olivier;
- Nitschke, Patrick;
- Thomas, Sophie;
- Vekemans, Michel;
- Razavi, Férechté;
- Boutaud, Lucile;
- Attie-Bitach, Tania
Publication type:
Article
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
Published in:
Thyroid, 2018, v. 28, n. 7, p. 941, doi. 10.1089/thy.2017.0502
By:
- Stoupa, Athanasia;
- Polak, Michel;
- Guériouz, Manelle;
- Carré, Aurore;
- Chaabane, Rim;
- Ammar Keskes, Leila;
- Belguith, Neila;
- Raynaud-Ravni, Catherine;
- Nitschke, Patrick;
- Bole-Feysot, Christine;
- Mnif, Mouna;
- Hachicha, Mongia
Publication type:
Article
Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1286747
By:
- Didier-Mathon, Hortense;
- Stoupa, Athanasia;
- Kariyawasam, Dulanjalee;
- Yde, Sonny;
- Cochant-Priollet, Beatrix;
- Groussin, Lionel;
- Sébag, Frédéric;
- Cagnard, Nicolas;
- Nitschke, Patrick;
- Luton, Dominique;
- Polak, Michel;
- Carré, Aurore
Publication type:
Article
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
Published in:
PLoS Neglected Tropical Diseases, 2018, v. 12, n. 5, p. 1, doi. 10.1371/journal.pntd.0006429
By:
- Vincent, Quentin B.;
- Belkadi, Aziz;
- Fayard, Cindy;
- Marion, Estelle;
- Adeye, Ambroise;
- Ardant, Marie-Françoise;
- Johnson, Christian R.;
- Agossadou, Didier;
- Lorenzo, Lazaro;
- Guergnon, Julien;
- Bole-Feysot, Christine;
- Manry, Jeremy;
- Nitschké, Patrick;
- Theodorou, Ioannis;
- Casanova, Jean-Laurent;
- Marsollier, Laurent;
- Chauty, Annick;
- Abel, Laurent;
- Alcaïs, Alexandre;
- null, null
Publication type:
Article
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 7, p. 929, doi. 10.1038/ejhg.2014.223
By:
- Nectoux, Juliette;
- de Cid, Rafael;
- Baulande, Sylvain;
- Leturcq, France;
- Urtizberea, Jon Andoni;
- Penisson-Besnier, Isabelle;
- Nadaj-Pakleza, Aleksandra;
- Roudaut, Carinne;
- Criqui, Audrey;
- Orhant, Lucie;
- Peyroulan, Delphine;
- Ben Yaou, Raba;
- Nelson, Isabelle;
- Cobo, Anna Maria;
- Arné-Bes, Marie-Christine;
- Uro-Coste, Emmanuelle;
- Nitschke, Patrick;
- Claustres, Mireille;
- Bonne, Gisèle;
- Lévy, Nicolas
Publication type:
Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217
By:
- Delphin, Nathalie;
- Hanein, Sylvain;
- Taie, Lucas Fares;
- Zanlonghi, Xavier;
- Bonneau, Dominique;
- Moisan, Jean-Paul;
- Boyle, Christine;
- Nitschke, Patrick;
- Pruvost, Solenn;
- Bonnefont, Jean-Paul;
- Munnich, Arnold;
- Roche, Olivier;
- Kaplan, Josseline;
- Rozet, Jean-Michel
Publication type:
Article
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23.
Published in:
European Heart Journal, 2011, v. 32, n. 2, p. 158, doi. 10.1093/eurheartj/ehq405
By:
- Erdmann, Jeanette;
- Willenborg, Christina;
- Nahrstaedt, Janja;
- Preuss, Michael;
- König, Inke R.;
- Baumert, Jens;
- Linsel-Nitschke, Patrick;
- Gieger, Christian;
- Tennstedt, Stephanie;
- Belcredi, Petra;
- Aherrahrou, Zouhair;
- Klopp, Norman;
- Loley, Christina;
- Stark, Klaus;
- Hengstenberg, Christian;
- Bruse, Petra;
- Freyer, Jennifer;
- Wagner, Arnika K.;
- Medack, Anja;
- Lieb, Wolfgang
Publication type:
Article
Physicians' perception of guideline-recommended low-density lipoprotein target values: characteristics of misclassified patients.
Published in:
European Heart Journal, 2010, v. 31, n. 10, p. 1266, doi. 10.1093/eurheartj/ehq026
By:
- Sager, Hendrik B.;
- Linsel-Nitschke, Patrick;
- Mayer, Björn;
- Lieb, Wolfgang;
- Franzel, Brigitte;
- Elsasser, Ulrich;
- Schunkert, Heribert
Publication type:
Article
Association between degenerative aortic valve disease and long-term exposure to cardiovascular risk factors: results of the longitudinal population-based KORA/MONICA survey.
Published in:
European Heart Journal, 2009, v. 30, n. 16, p. 2044
By:
- Stritzke, Jan;
- Linsel-Nitschke, Patrick;
- Markus, Marcello Ricardo Paulista;
- Mayer, Björn;
- Lieb, Wolfgang;
- Luchner, Andreas;
- Döring, Angela;
- Koenig, Wolfgang;
- Keil, Ulrich;
- Hense, Hans-Werner;
- Schunkert, Heribert
Publication type:
Article
First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
Published in:
European Journal of Endocrinology, 2020, v. 183, n. 5, p. K1, doi. 10.1530/EJE-20-0255
By:
- Stoupa, Athanasia;
- Chehade, Ghada Al Hage;
- Kariyawasam, Dulanjalee;
- Tohier, Celine;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Thibault, Helene;
- Jullie, Marie-Laure;
- Polak, Michel;
- Carré, Aurore
Publication type:
Article
Global analysis of genomic texts: The distribution of AGCT tetranucleotides in the Escherichia coli and Bacillus subtilis genomes predicts translational frameshifting and ribosomal hopping in several genes.
Published in:
Electrophoresis, 1998, v. 19, n. 4, p. 515, doi. 10.1002/elps.1150190411
By:
- Hénaut, Alain;
- Lisacek, Frédérique;
- Nitschké, Patrick;
- Moszer, Ivan;
- Danchin, Antoine
Publication type:
Article
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Published in:
Human Reproduction, 2023, v. 38, n. 5, p. 992, doi. 10.1093/humrep/dead052
By:
- Chatzovoulou, Kalliopi;
- Mayeur, Anne;
- Cagnard, Nicolas;
- Zarhrate, Mohammed;
- Bole, Christine;
- Nitschke, Patrick;
- Jabot-Hanin, Fabienne;
- Rötig, Agnès;
- Monnot, Sophie;
- Munnich, Arnold;
- Frydman, Nelly;
- Steffann, Julie
Publication type:
Article
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01519-8
By:
- Tessier, Aude;
- Roux, Nathalie;
- Boutaud, Lucile;
- Lunel, Elodie;
- Hakkakian, Leila;
- Parisot, Mélanie;
- Garfa-Traoré, Meriem;
- Ichkou, Amale;
- Elkhartoufi, Nadia;
- Bole, Christine;
- Nitschke, Patrick;
- Amiel, Jeanne;
- Martinovic, Jelena;
- Encha-Razavi, Férechté;
- Attié-Bitach, Tania;
- Thomas, Sophie
Publication type:
Article

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