Seuraa
Andreas Zankl
Andreas Zankl
Vahvistettu sähköpostiosoite verkkotunnuksessa sydney.edu.au
Nimike
Viittaukset
Viittaukset
Vuosi
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
8112017
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4692007
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways
T Fukada, N Civic, T Furuichi, S Shimoda, K Mishima, H Higashiyama, ...
PloS one 3 (11), e3642, 2008
3292008
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ...
The American Journal of Human Genetics 93 (5), 915-925, 2013
2402013
The human phenotype ontology: semantic unification of common and rare disease
T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ...
The American Journal of Human Genetics 97 (1), 111-124, 2015
2272015
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
R Ha‐Vinh, Y Alanay, RA Bank, AB Campos‐Xavier, A Zankl, ...
American journal of medical genetics Part A 131 (2), 115-120, 2004
2172004
Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years
A Zankl, L Eberle, L Molinari, A Schinzel
American journal of medical genetics 111 (4), 388-391, 2002
1572002
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
A Zankl, EL Duncan, PJ Leo, GR Clark, EA Glazov, MC Addor, T Herlin, ...
The American Journal of Human Genetics 90 (3), 494-501, 2012
1362012
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy
M Schmidts, J Vodopiutz, S Christou-Savina, CR Cortés, ...
The American Journal of Human Genetics 93 (5), 932-944, 2013
1332013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
AM McInerney-Leo, M Schmidts, CR Cortés, PJ Leo, B Gener, ...
The American Journal of Human Genetics 93 (3), 515-523, 2013
1322013
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an …
GC Jackson, L Mittaz‐Crettol, JA Taylor, GR Mortier, J Spranger, B Zabel, ...
Human mutation 33 (1), 144-157, 2012
1242012
Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies
M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ...
Human mutation 31 (5), E1319-E1331, 2010
992010
Optimal management of complications associated with achondroplasia
PJ Ireland, V Pacey, A Zankl, P Edwards, LM Johnston, R Savarirayan
The application of clinical genetics, 117-125, 2014
952014
Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia
EA Glazov, A Zankl, M Donskoi, TJ Kenna, GP Thomas, GR Clark, ...
PLoS genetics 7 (3), e1002027, 2011
942011
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
KP Hoornaert, C Dewinter, I Vereecke, FA Beemer, W Courtens, A Fryer, ...
Journal of medical genetics 43 (5), 406-413, 2006
882006
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related …
PA Terhal, RJAJ Nievelstein, EJJ Verver, V Topsakal, P van Dommelen, ...
American journal of medical genetics Part A 167 (3), 461-475, 2015
852015
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2
A Zankl, L Bonafe, V Calcaterra, M Di Rocco, A Superti‐Furga
Clinical genetics 67 (3), 261-266, 2005
812005
Automatic concept recognition using the human phenotype ontology reference and test suite corpora
T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ...
Database 2015, bav005, 2015
792015
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations
L Bonafé, ET Dermitzakis, S Unger, CR Greenberg, BA Campos-Xavier, ...
PLoS genetics 1 (4), e47, 2005
752005
Development in children with achondroplasia: a prospective clinical cohort study
PJ Ireland, S Donaghey, J McGILL, A Zankl, RS Ware, V Pacey, J Ault, ...
Developmental Medicine & Child Neurology 54 (6), 532-537, 2012
722012
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Artikkelit 1–20