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Items: 46

1.

Hereditary Neuropathies.

Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I.

Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Review.

2.

NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.

Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T.

Clin Genet. 2017 Jan;91(1):73-78. doi: 10.1111/cge.12803. Epub 2016 Jun 30.

PMID:
27172843
3.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.

Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11.

4.

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Rudnik-Schöneborn S, Deden F, Eggermann K, Eggermann T, Wieczorek D, Sellhaus B, Yamoah A, Goswami A, Claeys KG, Weis J, Zerres K.

Muscle Nerve. 2016 Sep;54(3):496-500. doi: 10.1002/mus.25114. Epub 2016 Jul 9.

PMID:
26998597
5.

Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.

Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K.

Neuromuscul Disord. 2016 Feb;26(2):132-5. doi: 10.1016/j.nmd.2015.12.003. Epub 2015 Dec 22.

PMID:
26794302
6.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

7.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.

Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29.

PMID:
25850958
8.

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.

Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, Rudnik-Schöneborn S, Gaspar H.

Neurology. 2015 Apr 14;84(15):1605-6. doi: 10.1212/WNL.0000000000001470. Epub 2015 Mar 20. No abstract available.

PMID:
25795643
9.

Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.

Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M.

Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19.

PMID:
24357605
10.

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.

Rudnik-Schöneborn S, Berg C, Zerres K, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Heller R.

Clin Genet. 2009 Aug;76(2):168-78. doi: 10.1111/j.1399-0004.2009.01200.x.

PMID:
19780763
11.

Congenital heart disease is a feature of severe infantile spinal muscular atrophy.

Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.

J Med Genet. 2008 Oct;45(10):635-8. doi: 10.1136/jmg.2008.057950. Epub 2008 Jul 28.

PMID:
18662980
12.

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

Eggermann T, Eggermann K, Schönherr N.

Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7. Review.

PMID:
18329128
13.

Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.

Eggermann K, Schönherr N, Ranke MB, Wollmann HA, Binder G, Eggermann T.

Genet Test. 2008 Mar;12(1):111-3. doi: 10.1089/gte.2007.0075.

PMID:
18307383
14.

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S.

Neuromuscul Disord. 2008 Feb;18(2):146-9. Epub 2007 Dec 21.

PMID:
18155522
15.

Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.

Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G.

Clin Genet. 2008 Jan;73(1):79-84. Epub 2007 Dec 7.

PMID:
18070127
16.
17.

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.

Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. Epub 2006 Aug 4.

PMID:
16905374
18.

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.

Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. Epub 2006 Mar 29.

PMID:
16603426
19.

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.

Eggermann T, Schönherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA.

J Med Genet. 2006 Jul;43(7):615-6. Epub 2005 Oct 19.

20.

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.

J Med Genet. 2005 May;42(5):e26.

21.

Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter.

Eggermann T, Meschede D, Schüler H, Palm S, Gläser D, Horsthemke B, Eggermann K, Haverkamp F, Zerres K.

Clin Genet. 2005 May;67(5):434-7. No abstract available.

PMID:
15811012
22.

Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature.

Eggermann K, Bergmann C, Heil I, Eggermann T, Zerres K, Schüler HM.

Am J Med Genet A. 2005 Apr 15;134A(2):226-8. Review. No abstract available.

PMID:
15633181
23.

Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.

Prager S, Wollmann HA, Mergenthaler S, Mavany M, Eggermann K, Ranke MB, Eggermann T.

Genet Test. 2003 Fall;7(3):259-63.

PMID:
14642004
24.

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G.

Clin Genet. 2002 Jul;62(1):89-93.

PMID:
12123494
25.

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

Schmidt C, Albers A, Tomiuk J, Eggermann K, Wagner C, Capasso G, Lahme S, Hesse A, Lang F, Zerres K, Eggermann T.

Clin Nephrol. 2002 May;57(5):342-8.

PMID:
12036192
26.

Uniparental disomy: clinical indications for testing in growth retardation.

Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA.

Eur J Pediatr. 2002 Jun;161(6):305-12. Epub 2002 Apr 26. Review.

PMID:
12029448
27.

Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome.

Eggermann T, Mergenthaler S, Eggermann K, Ranke MB, Wollmann HA.

Clin Genet. 2001 Nov;60(5):395-6. No abstract available.

PMID:
11903344
28.

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].

Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.

Orv Hetil. 2001 Jul 22;142(29):1561-4. Hungarian.

PMID:
11494748
29.

IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome.

Eggermann T, Kloos P, Mergenthaler S, Eggermann K, Dobos M, Ranke M, Wollmann H.

Clin Genet. 2001 May;59(5):371-3. No abstract available.

PMID:
11359473
30.

Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T.

J Med Genet. 2001 Mar;38(3):214. No abstract available.

31.

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S.

Ann Genet. 2001 Jan-Mar;44(1):41-5. Review.

PMID:
11334617
32.

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).

Dufke A, Eggermann K, Balg S, Stengel-Rutkowski S, Enders H, Kaiser P.

Cytogenet Cell Genet. 2000;91(1-4):85-9.

PMID:
11173836
33.

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA.

J Med Genet. 2001 Feb;38(2):86-9.

34.

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T.

Ann Genet. 2000 Jan-Mar;43(1):15-21. Review.

PMID:
10818216
35.

Rare case of De Novo interstitial deletion 2q13q21: clinical, cytogenetic, and molecular studies.

Eggermann K, Dufke A, Enders H, Kaiser P, Stötter M, Eggerman T.

Am J Med Genet. 2000 May 15;92(2):153-4. Review. No abstract available.

PMID:
10797442
36.

Search for uniparental disomy 14 in balanced Robertsonian translocation carriers.

Eggermann T, Wolf M, Spaich C, Uyanik G, Wolff G, Eggermann K, Mau UA, Kaiser P.

Clin Genet. 1999 Dec;56(6):464-6. No abstract available.

PMID:
10665668
37.

Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status.

Mergenthaler S, Eggermann K, Tomiuk J, Ranke MB, Wollmann HA, Eggermann T.

J Med Genet. 2000 Dec;37(12):E44. No abstract available.

38.

Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely.

Eggermann K, Wollmann HA, Binder G, Kaiser P, Ranke MB, Eggermann T.

Ann Genet. 1999;42(2):117-21.

PMID:
10434128
39.

Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients.

Eggermann K, Wollmann HA, Tomiuk J, Ranke MB, Kaiser P, Eggermann T.

Hum Hered. 1999 Jun;49(3):123-8.

PMID:
10364674
40.

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA.

J Med Genet. 1998 Sep;35(9):784-6.

41.

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy.

Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB.

Hum Genet. 1997 Sep;100(3-4):415-9.

PMID:
9272165
42.

Nonreplication of linkage disequilibrium between the dopamine D4 receptor locus and Tourette syndrome.

Hebebrand J, Nöthen MM, Ziegler A, Klug B, Neidt H, Eggermann K, Lehmkuhl G, Poustka F, Schmidt MH, Propping P, Remschmidt H.

Am J Hum Genet. 1997 Jul;61(1):238-9. No abstract available.

43.

Efficacy and side-effects of clozapine: testing for association with allelic variation in the dopamine D4 receptor gene.

Rietschel M, Naber D, Oberländer H, Holzbach R, Fimmers R, Eggermann K, Möller HJ, Propping P, Nöthen MM.

Neuropsychopharmacology. 1996 Nov;15(5):491-6.

44.

CNTF and psychiatric disorders.

Nöthen MM, Cichon S, Eggermann K, Propping P, Knapp M, Maier W, Rietschel M.

Nat Genet. 1996 Jun;13(2):142-3; author reply 144. No abstract available.

PMID:
8640216
45.

Association analysis of the monoamine oxidase A gene in bipolar affective disorder by using family-based internal controls.

Nöthen MM, Eggermann K, Albus M, Borrmann M, Rietschel M, Körner J, Maier W, Minges J, Lichtermann D, Franzek E, et al.

Am J Hum Genet. 1995 Oct;57(4):975-8. No abstract available.

46.

[Use of computers in nursing schools].

Eggermann K.

Dtsch Krankenpflegez. 1992 Nov;45(11):suppl 2-15. German. No abstract available.

PMID:
1468365

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