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Thomas Eggermann
Thomas Eggermann
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Jahr
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7202021
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription–factor domains and parallel …
LF Onuchic, L Furu, Y Nagasawa, X Hou, T Eggermann, Z Ren, ...
The American Journal of Human Genetics 70 (5), 1305-1317, 2002
5772002
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
EL Wakeling, F Brioude, O Lokulo-Sodipe, SM O'Connell, J Salem, J Bliek, ...
Nature Reviews Endocrinology 13 (2), 105-124, 2017
4632017
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
3792018
Genomic imprinting disorders: lessons on how genome, epigenome and environment interact
D Monk, DJG Mackay, T Eggermann, ER Maher, A Riccio
Nature Reviews Genetics 20 (4), 235-248, 2019
3362019
Genetic loci influencing kidney function and chronic kidney disease
JC Chambers, W Zhang, GM Lord, P Van Der Harst, DA Lawlor, JS Sehmi, ...
Nature genetics 42 (5), 373-375, 2010
3242010
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
R Kleta, E Romeo, Z Ristic, T Ohura, C Stuart, M Arcos-Burgos, MH Dave, ...
Nature genetics 36 (9), 999-1002, 2004
3242004
Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen
K Zerres, G Mücher, L Bachner, G Deschennes, T Eggermann, ...
Nature genetics 7 (3), 429-432, 1994
3051994
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ...
Nature Reviews Endocrinology 14 (8), 476-500, 2018
2722018
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, ...
Journal of medical genetics 45 (10), 635-638, 2008
2352008
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
C Bergmann, J Senderek, B Sedlacek, I Pegiazoglou, P Puglia, ...
Journal of the American Society of Nephrology 14 (1), 76-89, 2003
2352003
Paternally Inherited IGF2 Mutation and Growth Restriction
M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ...
New England Journal of Medicine 373 (4), 349-356, 2015
2272015
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
N Blagitko, S Mergenthaler, U Schulz, HA Wollmann, W Craigen, ...
Human molecular genetics 9 (11), 1587-1595, 2000
2002000
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
C Bergmann, J Senderek, F Küpper, F Schneider, C Dornia, E Windelen, ...
Human mutation 23 (5), 453-463, 2004
1932004
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
T Eggermann, G Perez de Nanclares, ER Maher, IK Temple, Z Tümer, ...
Clinical epigenetics 7, 1-18, 2015
1892015
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
T Eggermann, HA Wollmann, R Kuner, K Eggermann, H Enders, P Kaiser, ...
Human genetics 100, 415-419, 1997
1751997
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
LE Docherty, FI Rezwan, RL Poole, CLS Turner, E Kivuva, ER Maher, ...
Nature communications 6 (1), 8086, 2015
1672015
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
C Bergmann, K Zerres, J Senderek, S Rudnik‐Schöneborn, T Eggermann, ...
Brain 126 (7), 1537-1544, 2003
1582003
Luminal heterodimeric amino acid transporter defective in cystinuria
R Pfeiffer, J Loffing, G Rossier, C Bauch, C Meier, T Eggermann, ...
Molecular biology of the cell 10 (12), 4135-4147, 1999
1581999
Determination of SMN1 and SMN2 copy number using TaqMan™ technology
D Anhuf, T Eggermann, S Rudnik‐Schöneborn, K Zerres
Human mutation 22 (1), 74-78, 2003
1562003
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