K Eggermann
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Explore the profile of K Eggermann including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
362
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Recent Articles
1.
Eggermann K, Meyer R, Begemann M, Dey D, Bultmann E, Kurth I, et al.
Genes (Basel)
. 2022 Dec;
13(12).
PMID: 36553623
Background: Heterozygous gain-of-function variants in are associated with ataxia-pancytopenia syndrome (ATXPC) and monosomy 7 myelodysplasia and leukemia syndrome-1 (M7MLS1). Association with peripheral neuropathy has rarely been described. Methods: Whole-exome sequencing...
2.
Alkaissi H, Al-Sibahee E, Baher H, Eggermann K, Al-Abayechi A, Kurth I
Rev Neurol (Paris)
. 2021 Jul;
177(10):1307-1309.
PMID: 34229871
No abstract available.
3.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matuleviciene A, Kucinskas V, et al.
Clin Genet
. 2016 May;
91(1):73-78.
PMID: 27172843
Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show...
4.
Rudnik-Schoneborn S, Tolle D, Senderek J, Eggermann K, Elbracht M, Kornak U, et al.
Clin Genet
. 2015 Apr;
89(1):34-43.
PMID: 25850958
We present clinical features and genetic results of 1206 index patients and 124 affected relatives who were referred for genetic testing of Charcot-Marie-Tooth (CMT) neuropathy at the laboratory in Aachen...
5.
Rudnik-Schoneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, et al.
Clin Genet
. 2009 Sep;
76(2):168-78.
PMID: 19780763
We reviewed the natural history and assessed the SMN2 copy number of 66 patients with infantile spinal muscular atrophy (SMA) type I born between 2000 and 2005 in Germany whose...
6.
Rudnik-Schoneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, et al.
J Med Genet
. 2008 Jul;
45(10):635-8.
PMID: 18662980
Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal embryogenesis. Lack of SMN...
7.
Eggermann T, Schonherr N, Eggermann K, Buiting K, Ranke M, Wollmann H, et al.
Clin Genet
. 2007 Dec;
73(1):79-84.
PMID: 18070127
Silver-Russell syndrome (SRS) describes a malformation syndrome with severe intrauterine and postnatal growth retardation. Currently, two major (epi)mutations have been described: while approximately 10% of patients carry a maternal uniparental...
8.
Roos A, Rudnik-Schoneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, et al.
Eur J Med Genet
. 2006 Aug;
49(6):505-10.
PMID: 16905374
Chromosomal rearrangements involving the (sub)telomeres are an important cause of human genetic diseases: with the development of advanced molecular cytogenetic methods they have been identified as a major cause of...
9.
Schonherr N, Meyer E, Eggermann K, Ranke M, Wollmann H, Eggermann T
Eur J Med Genet
. 2006 Apr;
49(5):414-8.
PMID: 16603426
(Epi)mutations affecting chromosome 11p15 are meanwhile well known to be associated with growth disturbances. The finding of 11p15 mutations in the overgrowth disease Beckwith-Wiedemann syndrome (BWS) led to the identification...
10.
Eggermann T, Schonherr N, Meyer E, Obermann C, Mavany M, Eggermann K, et al.
J Med Genet
. 2005 Oct;
43(7):615-6.
PMID: 16236811
Introduction: Silver-Russell syndrome (SRS; also know as Russell-Silver syndrome) is a heterogeneous syndrome which is characterised by severe intrauterine and postnatal growth retardation and typical dysmorphic features. Recently, the first...