1. Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome. (4th January 2016) Authors: Hamon, Yveline; Legowska, Monika; Fergelot, Patricia; Dallet‐Choisy, Sandrine; Newell, Louise; Vanderlynden, Lise; Kord Valeshabad, Ali; Acrich, Karina; Kord, Hadi; Charalampos, Tsamakis; Morice‐Picard, Fanny; Surplice, Ian; Zoidakis, Jerome; David, Karen; Vlahou, Antonia; Ragunatha, Shivanna; Na... Journal: FEBS journal Issue: Volume 283:Number 3(2016) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brooke–Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. (October 2019) Authors: Cakmak Genc, Gunes; Dursun, Ahmet; Nagy, Nikoletta; Celikmakas, Ayca; Acuner, Burcin Journal: American journal of dermatopathology Issue: Volume 41:Number 10(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex. (6th January 2020) Authors: Koumbaris, George; Kypri, Elena; Tsangaras, Kyriakos; Achilleos, Achilleas; Mina, Petros; Neofytou, Maria; Velissariou, Voula; Christopoulou, Georgia; Kallikas, Ioannis; González-Liñán, Alicia; Benusiene, Egle; Latos-Bielenska, Anna; Marek, Pietryga; Santana, Alfredo; Nagy, Nikoletta; Széll, Márt... Journal: Clinical chemistry Issue: Volume 62:Number 6(2016) Page Start: 848 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chronic Nonhealing Wounds: Could Leg Ulcers Be Hereditary?. (10th March 2013) Authors: Nagy, Nikoletta; Szabad, Gábor; Szolnoky, Győző; Kiss-László, Zsuzsanna; Dósa-Rácz, Éva; Bata-Csörgő, Zsuzsanna; Kemény, Lajos; Széll, Márta Other Names: Frade Marco A. C. Academic Editor. Journal: Ulcers Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. Issue 3 (11th February 2014) Authors: Nagy, Nikoletta; Vályi, Péter; Csoma, Zsanett; Sulák, Adrienn; Tripolszki, Kornélia; Farkas, Katalin; Paschali, Ekaterine; Papp, Ferenc; Tóth, Lola; Fábos, Beáta; Kemény, Lajos; Nagy, Katalin; Széll, Márta Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 3(2014:May) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. Issue 4 (15th March 2017) Authors: Tripolszki, Kornélia; Török, Dóra; Goudenège, David; Farkas, Katalin; Sulák, Adrienn; Török, Nóra; Engelhardt, József I.; Klivényi, Péter; Procaccio, Vincent; Nagy, Nikoletta; Széll, Márta Journal: Brain and behavior Issue: Volume 7:Issue 4(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome. Issue 10 (17th September 2020) Authors: Pap, Éva Melinda; Farkas, Katalin; Széll, Márta; Németh, Gábor; Rajan, Neil; Nagy, Nikoletta Journal: Experimental dermatology Issue: Volume 29:Issue 10(2020) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene. (April 2015) Authors: Gajda, Anna; Horváth, Emese; Hortobágyi, Tibor; Gergev, Gyurgyinka; Szabó, Hajnalka; Farkas, Katalin; Nagy, Nikoletta; Széll, Márta; Sztriha, László Journal: Journal of child neurology Issue: Volume 30:Number 5(2015:Apr.) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Predominant female care in the beetle Lethrus apterus with supposedly biparental care. Issue 2 (20th January 2015) Authors: Kosztolányi, András; Nagy, Nikoletta; Kovács, Tibor; Barta, Zoltán Journal: Entomological science Issue: Volume 18:Issue 2(2015:Apr.) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. Issue 1 (December 2016) Authors: Farkas, Katalin; Deák, Barbara; Sánchez, Laura; Martínez, Ana; Corell, Juan; Botella, Alfredo; Benito, Goitzane; López, Raquel; Vanecek, Tomas; Kazakov, Dmitry; Kromosoeto, Joan; van den Ouweland, Ans; Varga, János; Széll, Márta; Nagy, Nikoletta Journal: BMC genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗