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Items: 32

1.

Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.

Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V, Speckmann C, Engels N, Warnatz K, Wienands J.

J Exp Med. 2018 May 7;215(5):1327-1336. doi: 10.1084/jem.20170534. Epub 2018 Apr 10.

PMID:
29636373
2.

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V.

Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5.

PMID:
29314551
3.

Polymorphism of the brain-derived neurotrophic factor and dynamics of the seizure threshold of electroconvulsive therapy.

Stephani C, Shoukier M, Ahmed R, Wolff-Menzler C.

Eur Arch Psychiatry Clin Neurosci. 2017 Dec;267(8):787-794. doi: 10.1007/s00406-016-0744-z. Epub 2016 Oct 27.

PMID:
27787610
4.

Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.

Menke J, Pauli S, Sigler M, Kühnle I, Shoukier M, Zoll B, Ganster C, Salinas-Riester G, Schaefer IM.

J Clin Oncol. 2015 May 1;33(13):e62-5. doi: 10.1200/JCO.2013.49.6539. Epub 2014 Mar 17. No abstract available.

PMID:
24637993
5.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K.

Cytogenet Genome Res. 2014;142(1):1-6. doi: 10.1159/000355436. Epub 2013 Oct 11.

PMID:
24135068
6.

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Schwaibold EM, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M.

Am J Med Genet A. 2013 Oct;161A(10):2634-40. doi: 10.1002/ajmg.a.36129. Epub 2013 Aug 15. Review.

PMID:
23949945
7.

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.

Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M.

Eur J Med Genet. 2013 Aug;56(8):458-62. doi: 10.1016/j.ejmg.2013.06.002. Epub 2013 Jun 26.

PMID:
23811035
8.

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.

Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B.

Neuropediatrics. 2013 Oct;44(5):268-71. doi: 10.1055/s-0033-1333874. Epub 2013 Feb 22.

PMID:
23436495
9.

Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.

Behnes CL, Schlegel C, Shoukier M, Magiera I, Henschke F, Schwarz A, Bremmer F, Loertzer H.

BMC Urol. 2013 Jan 15;13:3. doi: 10.1186/1471-2490-13-3.

10.

Azacitidine in fludarabine-refractory chronic lymphocytic leukemia: a phase II study.

Malik A, Shoukier M, Garcia-Manero G, Wierda W, Cortes J, Bickel S, Keating MJ, Estrov Z.

Clin Lymphoma Myeloma Leuk. 2013 Jun;13(3):292-5. doi: 10.1016/j.clml.2012.11.009. Epub 2012 Dec 21.

11.

Multifocal capillary malformations due to RASA1 mutation misdiagnosed as cutaneous mastocytosis.

Buhl T, Shoukier M, Grzmil P, Revencu N, Schön MP, Seitz CS.

Arch Dermatol. 2012 Nov;148(11):1334-5. doi: 10.1001/archdermatol.2012.2835. No abstract available.

PMID:
23165854
12.

A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M.

Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6.

PMID:
23051634
13.

[Hermansky-Pudlak syndrome].

Atili A, Lübke J, Shoukier M, Schittkowski MP.

Ophthalmologe. 2013 Feb;110(2):160-3. doi: 10.1007/s00347-012-2621-0. German.

PMID:
22806537
14.

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4.

PMID:
22677035
15.

Mucocutaneous telangiectasia - it's the tip of the iceberg.

Böckle BC, Shoukier M, Kaulfuß S, Sepp NT.

J Eur Acad Dermatol Venereol. 2013 Mar;27(3):393-4. doi: 10.1111/j.1468-3083.2012.04490.x. Epub 2012 Mar 7. No abstract available.

PMID:
22394114
16.

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G.

Am J Med Genet A. 2012 Mar;158A(3):652-8. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7.

PMID:
22315187
17.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B.

Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21.

PMID:
22283495
18.

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.

Shoukier M, Schröder J, Zoll B, Burfeind P, Freiberg C, Klinge L, Kriebel T, Lingen M, Mohr A, Brockmann K.

Am J Med Genet A. 2012 Feb;158A(2):429-33. doi: 10.1002/ajmg.a.34427. Epub 2012 Jan 13.

PMID:
22246919
19.

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.

Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.

20.

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.

Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P.

Am J Med Genet A. 2012 Jan;158A(1):229-35. doi: 10.1002/ajmg.a.34387. Epub 2011 Dec 2.

PMID:
22140031
21.

Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.

Lenartowicz M, Grzmil P, Shoukier M, Starzyński R, Marciniak M, Lipiński P.

Metallomics. 2012 Feb;4(2):197-204. doi: 10.1039/c1mt00134e. Epub 2011 Nov 16.

PMID:
22089129
22.

Phenotypic spectrum associated with CASK loss-of-function mutations.

Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G.

J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27.

PMID:
21954287
23.

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B.

Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7.

PMID:
21739600
24.

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.

Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A.

Clin Genet. 2012 Jan;81(1):82-7. doi: 10.1111/j.1399-0004.2010.01598.x. Epub 2010 Dec 22.

PMID:
21175598
25.

Brain-derived neurotrophic factor (BDNF) gene polymorphisms shape cortical plasticity in humans.

Antal A, Chaieb L, Moliadze V, Monte-Silva K, Poreisz C, Thirugnanasambandam N, Nitsche MA, Shoukier M, Ludwig H, Paulus W.

Brain Stimul. 2010 Oct;3(4):230-7. doi: 10.1016/j.brs.2009.12.003. Epub 2010 Jan 14.

PMID:
20965453
26.

Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay.

Klimpe S, Zibat A, Zechner U, Wellek B, Shoukier M, Sauter SM, Pantakani DV, Mannan AU.

Eur J Neurol. 2011 Jan;18(1):99-105. doi: 10.1111/j.1468-1331.2010.03079.x.

PMID:
20491894
27.

Pathways of proliferation and antiapoptosis driven in breast cancer stem cells by stem cell protein piwil2.

Lee JH, Jung C, Javadian-Elyaderani P, Schweyer S, Schütte D, Shoukier M, Karimi-Busheri F, Weinfeld M, Rasouli-Nia A, Hengstler JG, Mantilla A, Soleimanpour-Lichaei HR, Engel W, Robson CN, Nayernia K.

Cancer Res. 2010 Jun 1;70(11):4569-79. doi: 10.1158/0008-5472.CAN-09-2670. Epub 2010 May 11.

28.

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.

Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F.

Clin Genet. 2010 Jun;77(6):593-7. doi: 10.1111/j.1399-0004.2009.01363.x. Epub 2010 Mar 1. No abstract available.

PMID:
20236119
29.

Functional evaluation of paraplegin mutations by a yeast complementation assay.

Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU.

Hum Mutat. 2010 May;31(5):617-21. doi: 10.1002/humu.21226.

PMID:
20186691
30.

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Shoukier M, Neesen J, Sauter SM, Argyriou L, Doerwald N, Pantakani DV, Mannan AU.

Eur J Hum Genet. 2009 Feb;17(2):187-94. doi: 10.1038/ejhg.2008.147. Epub 2008 Aug 13. Erratum in: Eur J Hum Genet. 2009 Mar;17(3):401-2.

31.

A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.

Argyriou L, Wirbelauer J, Dev A, Panchulidze I, Shoukier M, Teske U, Nayernia K.

Swiss Med Wkly. 2008 Jul 26;138(29-30):432-6. doi: 2008/29/smw-12135.

PMID:
18654869
32.

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia.

Shoukier M, Teske U, Weise A, Engel W, Argyriou L.

Clin Genet. 2008 Apr;73(4):320-30. doi: 10.1111/j.1399-0004.2008.00968.x. Epub 2008 Feb 26.

PMID:
18312453

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