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Items: 48

1.

Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).

Merino-Martinez R, Norlin L, van Enckevort D, Anton G, Schuffenhauer S, Silander K, Mook L, Holub P, Bild R, Swertz M, Litton JE.

Biopreserv Biobank. 2016 Aug;14(4):298-306. doi: 10.1089/bio.2015.0070. Epub 2016 Mar 15.

PMID:
26977825
2.

[Connecting biobanks of large European cohorts (EU Project BBMRI-LPC)].

Kuhn KA, Bild R, Anton G, Schuffenhauer S, Wichmann HE.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2016 Mar;59(3):385-9. doi: 10.1007/s00103-015-2300-9. German.

PMID:
26809823
3.

Comprehensive catalog of European biobanks.

Wichmann HE, Kuhn KA, Waldenberger M, Schmelcher D, Schuffenhauer S, Meitinger T, Wurst SH, Lamla G, Fortier I, Burton PR, Peltonen L, Perola M, Metspalu A, Riegman P, Landegren U, Taussig MJ, Litton JE, Fransson MN, Eder J, Cambon-Thomsen A, Bovenberg J, Dagher G, van Ommen GJ, Griffith M, Yuille M, Zatloukal K.

Nat Biotechnol. 2011 Sep 8;29(9):795-7. doi: 10.1038/nbt.1958. No abstract available.

PMID:
21904320
4.

A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction.

Callen DF, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K.

Chromosoma. 2002 Sep;111(3):170-5. Epub 2002 Aug 6.

PMID:
12355206
5.

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.

Lichtner P, Attié-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ, Meitinger T, Vekemans M.

J Mol Med (Berl). 2002 Jul;80(7):431-42. Epub 2002 Apr 4.

PMID:
12110949
6.

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW.

Am J Med Genet. 2001 Aug 1;102(2):173-82.

PMID:
11477612
7.

Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.

Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S.

J Med Genet. 2000 Oct;37(10):804-7. No abstract available.

8.

GATA3 haplo-insufficiency causes human HDR syndrome.

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K.

Nature. 2000 Jul 27;406(6794):419-22.

PMID:
10935639
9.

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH.

Clin Genet. 2000 May;57(5):349-58.

PMID:
10852369
10.

An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.

Azofeifa J, Fauth C, Kraus J, Maierhofer C, Langer S, Bolzer A, Reichman J, Schuffenhauer S, Speicher MR.

Am J Hum Genet. 2000 May;66(5):1684-8. Epub 2000 Apr 4.

11.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.

J Med Genet. 2000 Apr;37(4):281-6.

12.

Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD.

Clin Genet. 2000 Feb;57(2):137-9.

PMID:
10735635
13.

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S.

J Med Genet. 2000 Jan;37(1):33-7. Review.

14.

Multiplex-FISH for pre- and postnatal diagnostic applications.

Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR.

Am J Hum Genet. 1999 Aug;65(2):448-62.

15.

[29-year-old patient with gynecomastia and small testis].

Brand S, Strom TM, Weber MM, Schuffenhauer S, Murken J, Engelhardt D.

Internist (Berl). 1999 Apr;40(4):437-41. German. No abstract available.

PMID:
10354944
16.

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S.

Am J Med Genet. 1999 Apr 23;83(5):425-6. No abstract available.

PMID:
10232757
17.

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P.

J Med Genet. 1999 Mar;36(3):233-6.

19.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.

Eur J Hum Genet. 1998 May-Jun;6(3):213-25.

20.

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

Hewett DR, Handt O, Hobson L, Mangelsdorf M, Eyre HJ, Baker E, Sutherland GR, Schuffenhauer S, Mao JI, Richards RI.

Mol Cell. 1998 May;1(6):773-81.

21.

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Schröder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H.

Hum Genet. 1998 May;102(5):557-61.

PMID:
9654204
22.

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ.

Hum Mol Genet. 1998 Jun;7(6):1011-9.

PMID:
9580665
23.

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.

Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E.

Eur J Neurosci. 1997 Dec;9(12):2512-21.

PMID:
9517456
24.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al.

J Med Genet. 1997 Oct;34(10):798-804.

25.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.

J Med Genet. 1997 Aug;34(8):683-4.

26.

Mapping of the human adenosine A2a receptor gene: relationship to potential schizophrenia loci on chromosome 22q and exclusion from the CATCH 22 region.

Deckert J, Nöthen MM, Bryant SP, Schuffenhauer S, Schofield PR, Spurr NK, Propping P.

Hum Genet. 1997 Mar;99(3):326-8.

PMID:
9050917
27.

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP.

Am J Med Genet. 1996 Oct 16;65(2):133-6.

PMID:
8911605
28.

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.

Schuffenhauer S, Kobelt A, Daumer-Haas C, Löffler C, Müller G, Murken J, Meitinger T.

Am J Med Genet. 1996 Oct 2;65(1):56-9.

PMID:
8914742
29.

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.

Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A.

Prenat Diagn. 1996 Sep;16(9):837-44.

PMID:
8905898
30.

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12-->q13.3) inherited from the mother.

Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S.

Clin Genet. 1996 Aug;50(2):63-73. Review.

PMID:
8937763
31.

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P.

Nat Genet. 1996 Aug;13(4):458-60.

PMID:
8696341
32.

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.

Hum Genet. 1996 Jun;97(6):784-93.

PMID:
8641697
33.

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

von Gernet S, Schuffenhauer S, Golla A, Lichtner P, Balg S, Mühlbauer W, Murken J, Fairley J, Meitinger T.

Am J Med Genet. 1996 May 3;63(1):177-84.

PMID:
8723106
34.

A heritable folate-sensitive fragile site on chromosome 2p 11.2 (FRA2L).

Schuffenhauer S, Lederer G, Murken J.

Chromosome Res. 1996 Apr;4(3):252-4. No abstract available.

PMID:
8793213
35.

A familial deletion in the Prader-Willi syndrome region including the imprinting control region.

Schuffenhauer S, Buchholz T, Stengel-Rutkowski S, Buiting K, Schmidt H, Meitinger T.

Hum Mutat. 1996;8(3):288-92. No abstract available.

PMID:
8889594
36.

Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome.

Buchholz T, Schuffenhauer S, Evans K, Robson L, Appleton B, Smith A.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):217-20. No abstract available.

PMID:
8872034
37.

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor.

Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, Hinkel GK, Meitinger T, Wegner RD.

Hum Genet. 1995 Nov;96(5):562-71.

PMID:
8530004
38.

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1.

Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A, Meitinger T.

Genomics. 1995 Aug 10;28(3):605-7. No abstract available.

PMID:
7490108
39.
40.

DiGeorge syndrome and partial monosomy 10p: case report and review.

Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.

Ann Genet. 1995;38(3):162-7. Review.

PMID:
8540688
41.

The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.

Brilliant MH, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner JM, Durham-Pierre D, Nakatsu Y.

Pigment Cell Res. 1994 Dec;7(6):398-402.

PMID:
7761348
42.

Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.

Daumer-Haas C, Schuffenhauer S, Walther JU, Schipper RD, Porstmann T, Korenberg JR.

Am J Med Genet. 1994 Dec 1;53(4):359-65.

PMID:
7532356
43.

[Dyskeratosis congenita in monozygous twins].

Burkhardt D, Schirren CG, Schuffenhauer S, Ullmann S, Schirren H.

Hautarzt. 1994 Apr;45(4):249-55. German.

PMID:
8014052
44.

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T.

J Med Genet. 1993 Oct;30(10):838-42.

45.

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al.

J Med Genet. 1993 Oct;30(10):828-32.

46.

[Incontinentia pigmenti in a male patient].

Burkhardt D, Schuffenhauer S, Peter RU, Walther JU, Ruzicka T.

Hautarzt. 1993 Mar;44(3):153-6. German.

PMID:
8463096
47.

Increased parental ages and uniparental disomy 15: a paternal age effect?

Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA.

Eur J Hum Genet. 1993;1(4):280-6.

PMID:
8081941
48.

De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.

Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J.

Clin Genet. 1992 Nov;42(5):246-50.

PMID:
1486702

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