Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 372

1.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Aug 20. pii: aww212. [Epub ahead of print]

PMID:
27543974
2.

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.

Rudnik-Schöneborn S, Witsch-Baumgartner M, Zerres K.

Gynecol Obstet Invest. 2016 Jun 15. [Epub ahead of print]

PMID:
27300293
3.

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. 2016 May 13. doi: 10.1111/cge.12803. [Epub ahead of print]

PMID:
27172843
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.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M.

Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.

PMID:
26924529
6.

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
7.

MAOA-VNTR polymorphism modulates context-dependent dopamine release and aggressive behavior in males.

Schlüter T, Winz O, Henkel K, Eggermann T, Mohammadkhani-Shali S, Dietrich C, Heinzel A, Decker M, Cumming P, Zerres K, Piel M, Mottaghy FM, Vernaleken I.

Neuroimage. 2016 Jan 15;125:378-85. doi: 10.1016/j.neuroimage.2015.10.031. Epub 2015 Oct 16.

PMID:
26481676
8.

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.

Mol Cell Probes. 2015 Oct;29(5):299-307. doi: 10.1016/j.mcp.2015.05.008. Epub 2015 May 21.

PMID:
26003401
9.

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20. No abstract available.

PMID:
25990799
10.

[Non-invasive Genetic Prenatal Testing - A Serious Challenge for Society as a Whole].

Zerres K.

Z Geburtshilfe Neonatol. 2015 Apr;219(2):69-72. doi: 10.1055/s-0035-1547294. Epub 2015 Apr 22. Review. German.

PMID:
25901867
11.

[The possibility of non-invasive prenatal diagnosis requires a broad societal discussion].

Zerres K.

Z Geburtshilfe Neonatol. 2015 Apr;219(2):68. doi: 10.1055/s-0035-1548757. Epub 2015 Apr 22. German. No abstract available.

PMID:
25901865
12.

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

Kirschner MM, Schemionek M, Schubert C, Chatain N, Sontag S, Isfort S, Ortiz-Brüchle N, Schmitt K, Krüger L, Zerres K, Zenke M, Brümmendorf TH, Koschmieder S.

PLoS One. 2015 Apr 20;10(4):e0123476. doi: 10.1371/journal.pone.0123476. eCollection 2015.

13.

Rationale, design and objectives of ARegPKD, a European ARPKD registry study.

Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group.

BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z.

14.

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
15.

Alcohol Consumption in Healthy OPRM1 G Allele Carriers and Its Association with Impulsive Behavior.

Pfeifer P, Sariyar M, Eggermann T, Zerres K, Vernaleken I, Tüscher O, Fehr C.

Alcohol Alcohol. 2015 Jul;50(4):379-84. doi: 10.1093/alcalc/agv019. Epub 2015 Apr 1.

16.

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F.

Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31.

17.

Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.

Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T.

Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.

PMID:
25339544
18.

Transcriptional complexity in autosomal recessive polycystic kidney disease.

Frank V, Zerres K, Bergmann C.

Clin J Am Soc Nephrol. 2014 Oct 7;9(10):1729-36. doi: 10.2215/CJN.00920114. Epub 2014 Aug 7.

19.

[Genetics and epigenetics. Explanatory approaches for (gender-specific) mechanisms of disease development].

Zerres K, Eggermann T.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2014 Sep;57(9):1047-53. doi: 10.1007/s00103-014-2013-5. German.

PMID:
25070408
20.

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J.

Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621.

PMID:
25044882
Items per page

Supplemental Content

Loading ...
Write to the Help Desk