Results
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81.
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Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile. [electronic resource] by
- Brinkhuizen, Tjinta
- van Geel, Michel
- Denil, Simon L I J
- De Meyer, Tim
- Kelleners-Smeets, Nicole W J
- Lohuis, Peter J F M
- Hoebers, Frank J P
- Winnepenninckx, Véronique J L
- van Steensel, Maurice A M
- Mosterd, Klara
Producer: 20170207
In:
Experimental dermatology vol. 25
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82.
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Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. [electronic resource] by
- de Zwart-Storm, Eugene A
- Rosa, Rafael F M
- Martin, Patricia E
- Foelster-Holst, Regina
- Frank, Jorge
- Bau, Ana E K
- Zen, Paulo R G
- Graziadio, Carla
- Paskulin, Giorgio A
- Kamps, Miriam A
- van Geel, Michel
- van Steensel, Maurice A M
Producer: 20110916
In:
Experimental dermatology vol. 20
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83.
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The effect of topical diclofenac 3% and calcitriol 3 μg/g on superficial basal cell carcinoma (sBCC) and nodular basal cell carcinoma (nBCC): A phase II, randomized controlled trial. [electronic resource] by
- Brinkhuizen, Tjinta
- Frencken, Kiki J A
- Nelemans, Patty J
- Hoff, Marlou L S
- Kelleners-Smeets, Nicole W J
- Zur Hausen, Axel
- van der Horst, Michiel P J
- Rennspiess, Dorit
- Winnepenninckx, Véronique J L
- van Steensel, Maurice A M
- Mosterd, Klara
Producer: 20170412
In:
Journal of the American Academy of Dermatology vol. 75
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84.
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The genetic basis of pachyonychia congenita. [electronic resource] by
- Smith, Frances J D
- Liao, Haihui
- Cassidy, Andrew J
- Stewart, Arlene
- Hamill, Kevin J
- Wood, Pamela
- Joval, Iris
- van Steensel, Maurice A M
- Björck, Erik
- Callif-Daley, Faith
- Pals, Gerald
- Collins, Paul
- Leachman, Sancy A
- Munro, Colin S
- McLean, W H Irwin
Producer: 20051212
In:
The journal of investigative dermatology. Symposium proceedings vol. 10
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85.
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Clinical and pathological features of pachyonychia congenita. [electronic resource] by
- Leachman, Sancy A
- Kaspar, Roger L
- Fleckman, Philip
- Florell, Scott R
- Smith, Frances J D
- McLean, W H Irwin
- Lunny, Declan P
- Milstone, Leonard M
- van Steensel, Maurice A M
- Munro, Colin S
- O'Toole, Edel A
- Celebi, Julide T
- Kansky, Aleksej
- Lane, E Birgitte
Producer: 20051212
In:
The journal of investigative dermatology. Symposium proceedings vol. 10
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86.
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Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies. [electronic resource] by
- De Vos, Winnok H
- Houben, Frederik
- Kamps, Miriam
- Malhas, Ashraf
- Verheyen, Fons
- Cox, Juliën
- Manders, Erik M M
- Verstraeten, Valerie L R M
- van Steensel, Maurice A M
- Marcelis, Carlo L M
- van den Wijngaard, Arthur
- Vaux, David J
- Ramaekers, Frans C S
- Broers, Jos L V
Producer: 20120131
In:
Human molecular genetics vol. 20
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87.
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Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. [electronic resource] by
- Verstraeten, Valerie L R M
- Broers, Jos L V
- van Steensel, Maurice A M
- Zinn-Justin, Sophie
- Ramaekers, Frans C S
- Steijlen, Peter M
- Kamps, Miriam
- Kuijpers, Helma J H
- Merckx, Diane
- Smeets, Hubert J M
- Hennekam, Raoul C M
- Marcelis, Carlo L M
- van den Wijngaard, Arthur
Producer: 20061113
In:
Human molecular genetics vol. 15
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88.
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A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation. [electronic resource] by
- Menko, Fred H
- Johannesma, Paul C
- van Moorselaar, R Jeroen A
- Reinhard, Rinze
- van Waesberghe, Jan Hein
- Thunnissen, Erik
- Houweling, Arjan C
- Leter, Edward M
- Waisfisz, Quinten
- van Doorn, Martijn B
- Starink, Theo M
- Postmus, Pieter E
- Coull, Barry J
- van Steensel, Maurice A M
- Gille, Johan J P
Producer: 20140522
In:
Familial cancer vol. 12
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89.
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The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. [electronic resource] by
- Yan, Ming
- Gingras, Marie-Claude
- Dunlop, Elaine A
- Nouët, Yann
- Dupuy, Fanny
- Jalali, Zahra
- Possik, Elite
- Coull, Barry J
- Kharitidi, Dmitri
- Dydensborg, Anders Bondo
- Faubert, Brandon
- Kamps, Miriam
- Sabourin, Sylvie
- Preston, Rachael S
- Davies, David Mark
- Roughead, Taren
- Chotard, Laëtitia
- van Steensel, Maurice A M
- Jones, Russell
- Tee, Andrew R
- Pause, Arnim
Producer: 20140818
In:
The Journal of clinical investigation vol. 124
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90.
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The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. [electronic resource] by
- Verstraeten, Valerie L R M
- Caputo, Sandrine
- van Steensel, Maurice A M
- Duband-Goulet, Isabelle
- Zinn-Justin, Sophie
- Kamps, Miriam
- Kuijpers, Helma J H
- Ostlund, Cecilia
- Worman, Howard J
- Briedé, Jacob J
- Le Dour, Caroline
- Marcelis, Carlo L M
- van Geel, Michel
- Steijlen, Peter M
- van den Wijngaard, Arthur
- Ramaekers, Frans C S
- Broers, Jos L V
Producer: 20090928
In:
Journal of cellular and molecular medicine vol. 13
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91.
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Birt-Hogg-Dube syndrome is a novel ciliopathy. [electronic resource] by
- Luijten, Monique N H
- Basten, Sander G
- Claessens, Tijs
- Vernooij, Marigje
- Scott, Claire L
- Janssen, Renske
- Easton, Jennifer A
- Kamps, Miriam A F
- Vreeburg, Maaike
- Broers, Jos L V
- van Geel, Michel
- Menko, Fred H
- Harbottle, Richard P
- Nookala, Ravi K
- Tee, Andrew R
- Land, Stephen C
- Giles, Rachel H
- Coull, Barry J
- van Steensel, Maurice A M
Producer: 20140430
In:
Human molecular genetics vol. 22
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92.
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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. [electronic resource] by
- de Vos, Ivo J H M
- Tao, Evelyn Yaqiong
- Ong, Sheena Li Ming
- Goggi, Julian L
- Scerri, Thomas
- Wilson, Gabrielle R
- Low, Chernis Guai Mun
- Wong, Arnette Shi Wei
- Grussu, Dominic
- Stegmann, Alexander P A
- van Geel, Michel
- Janssen, Renske
- Amor, David J
- Bahlo, Melanie
- Dunn, Norris R
- Carney, Thomas J
- Lockhart, Paul J
- Coull, Barry J
- van Steensel, Maurice A M
Producer: 20190308
In:
Human molecular genetics vol. 27
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93.
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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). [electronic resource] by
- Hamada, Takahiro
- McLean, W H Irwin
- Ramsay, Michele
- Ashton, Gabrielle H S
- Nanda, Arti
- Jenkins, Trefor
- Edelstein, Isobel
- South, Andrew P
- Bleck, Oliver
- Wessagowit, Vesarat
- Mallipeddi, Rajeev
- Orchard, Guy E
- Wan, Hong
- Dopping-Hepenstal, Patricia J C
- Mellerio, Jemima E
- Whittock, Neil V
- Munro, Colin S
- van Steensel, Maurice A M
- Steijlen, Peter M
- Ni, Jian
- Zhang, Lurong
- Hashimoto, Takashi
- Eady, Robin A J
- McGrath, John A
Producer: 20020911
In:
Human molecular genetics vol. 11
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94.
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Gram-positive anaerobe cocci are underrepresented in the microbiome of filaggrin-deficient human skin. [electronic resource] by
- Zeeuwen, Patrick L J M
- Ederveen, Thomas H A
- van der Krieken, Danique A
- Niehues, Hanna
- Boekhorst, Jos
- Kezic, Sanja
- Hanssen, Daniëlle A T
- Otero, Marisol E
- van Vlijmen-Willems, Ivonne M J J
- Rodijk-Olthuis, Diana
- Falcone, Denise
- van den Bogaard, Ellen H J
- Kamsteeg, Marijke
- de Koning, Heleen D
- Zeeuwen-Franssen, Manon E J
- van Steensel, Maurice A M
- Kleerebezem, Michiel
- Timmerman, Harro M
- van Hijum, Sacha A F T
- Schalkwijk, Joost
Producer: 20181211
In:
The Journal of allergy and clinical immunology vol. 139
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95.
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An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. [electronic resource] by
- McLean, W H Irwin
- Irvine, Alan D
- Hamill, Kevin J
- Whittock, Neil V
- Coleman-Campbell, Carrie M
- Mellerio, Jemima E
- Ashton, Gabrielle S
- Dopping-Hepenstal, Patricia J H
- Eady, Robin A J
- Jamil, Tanvir
- Phillips, Roderic J
- Shabbir, S Ghulam
- Haroon, Tahir S
- Khurshid, Khawar
- Moore, Jonathan E
- Page, Brian
- Darling, Jonathan
- Atherton, David J
- Van Steensel, Maurice A M
- Munro, Colin S
- Smith, Frances J D
- McGrath, John A
- Phillips, Rodney J
Producer: 20040415
In:
Human molecular genetics vol. 12
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96.
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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. [electronic resource] by
- Sandilands, Aileen
- Terron-Kwiatkowski, Ana
- Hull, Peter R
- O'Regan, Gráinne M
- Clayton, Timothy H
- Watson, Rosemarie M
- Carrick, Thomas
- Evans, Alan T
- Liao, Haihui
- Zhao, Yiwei
- Campbell, Linda E
- Schmuth, Matthias
- Gruber, Robert
- Janecke, Andreas R
- Elias, Peter M
- van Steensel, Maurice A M
- Nagtzaam, Ivo
- van Geel, Michel
- Steijlen, Peter M
- Munro, Colin S
- Bradley, Daniel G
- Palmer, Colin N A
- Smith, Frances J D
- McLean, W H Irwin
- Irvine, Alan D
Producer: 20080102
In:
Nature genetics vol. 39
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97.
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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. [electronic resource] by
- Wen, Yaran
- Liu, Yang
- Xu, Yiming
- Zhao, Yiwei
- Hua, Rui
- Wang, Kaibo
- Sun, Miao
- Li, Yuanhong
- Yang, Sen
- Zhang, Xue-Jun
- Kruse, Roland
- Cichon, Sven
- Betz, Regina C
- Nöthen, Markus M
- van Steensel, Maurice A M
- van Geel, Michel
- Steijlen, Peter M
- Hohl, Daniel
- Huber, Marcel
- Dunnill, Giles S
- Kennedy, Cameron
- Messenger, Andrew
- Munro, Colin S
- Terrinoni, Alessandro
- Hovnanian, Alain
- Bodemer, Christine
- de Prost, Yves
- Paller, Amy S
- Irvine, Alan D
- Sinclair, Rod
- Green, Jack
- Shang, Dandan
- Liu, Qing
- Luo, Yang
- Jiang, Li
- Chen, Hong-Duo
- Lo, Wilson H-Y
- McLean, W H Irwin
- He, Chun-Di
- Zhang, Xue
Producer: 20090213
In:
Nature genetics vol. 41
Availability: No items available.
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