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Uhrig Sabine |

Publications

** = Publications listed in SCI/SSCI/Pubmed

2017

Full paper/article (Journal)

** Feichtinger, RG; Brunner-Krainz, M; Alhaddad, B; Wortmann, SB; Kovacs-Nagy, R; Stojakovic, T; Erwa, W; Resch, B; Windischhofer, W; Verheyen, S; Uhrig, S; Windpassinger, C; Locker, F; Makowski, C; Strom, TM; Meitinger, T; Prokisch, H; Sperl, W; Haack, TB; Mayr, JA Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Oxid Med Cell Longev. 2017; 2017(3-4):7202589-7202589 Doi: 10.1155/2017/7202589 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2015

Full paper/article (Journal)

** Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):633-638 Doi: 10.1038/ejhg.2014.109 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Correction

** Kolanczyk, M; Krawitz, P; Hecht, J; Hupalowska, A; Miaczynska, M; Marschner, K; Schlack, C; Emmerich, D; Kobus, K; Kornak, U; Robinson, PN; Plecko, B; Grangl, G; Uhrig, S; Mundlos, S; Horn, D Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Eur J Hum Genet. 2015; 23(5):720-720 Doi: 10.1038/ejhg.2014.278 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2014

Full paper/article (Journal)

** Seidel, MG; Duerr, C; Woutsas, S; Schwerin-Nagel, A; Sadeghi, K; Neesen, J; Uhrig, S; Santos-Valente, E; Pickl, WF; Schwinger, W; Urban, C; Boztug, K; Förster-Waldl, E A novel immunodeficiency syndrome associated with partial trisomy 19p13.
J Med Genet. 2014; 51(4):254-63 Doi: 10.1136/jmedgenet-2013-102122 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Review

** Reiterer, F; Grossauer, K; Morris, N; Uhrig, S; Resch, B Congenital pulmonary lymphangiectasis.
Paediatr Respir Rev. 2014; 15(3):275-280 Doi: 10.1016/j.prrv.2014.05.002
Web of Science PubMed FullText FullText_MUG

2013

Full paper/article (Journal)

** Muhn, F; Klopocki, E; Graul-Neumann, L; Uhrig, S; Colley, A; Castori, M; Lankes, E; Henn, W; Gruber-Sedlmayr, U; Seifert, W; Horn, D Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Clin Genet. 2013; 84(6):531-538 Doi: 10.1111/cge.12106
Web of Science PubMed FullText FullText_MUG

Review

** Orendi, K; Uhrig, S; Mach, M; Tschepper, P; Speicher, MR Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Am J Med Genet A. 2013; 161A(7):1806-1812 Doi: 10.1002/ajmg.a.35986 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2012

Full paper/article (Journal)

** Nagel, B; Gruber-Sedlmayr, U; Uhrig, S; Stöllberger, C; Klopocki, E; Finsterer, J Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet. 2012; 13(8):60-60 Doi: 10.1186/1471-2350-13-60 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Schwetz, V; Uhrig, S; Spuller, E; Deutschmann, A; Högenauer, C Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Eur J Gastroenterol Hepatol. 2012; 24(8):988-994 Doi: 10.1097/MEG.0b013e328354f43e
Web of Science PubMed FullText FullText_MUG

** Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389 Doi: 10.1055/s-0032-1323836 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2010

Full paper/article (Journal)

** Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Nat Genet. 2010; 42(2):160-164 Doi: 10.1038/ng.508 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Sovinz, P; Urban, C; Uhrig, S; Stepan, V; Lackner, H; Schwinger, W; Benesch, M; Moser, A; Spuller, E; Speicher, MR Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Am J Med Genet A. 2010; 152A(7): 1752-1755. Doi: 10.1002/ajmg.a.33407 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2008

Full paper/article (Journal)

** Schulz, AL; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, CA; Korenke, GC; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Clin Genet. 2008; 73(1):62-70 Doi: 10.1111/j.1399-0004.2007.00931.x
Web of Science PubMed FullText FullText_MUG

2007

Full paper/article (Journal)

** Uhrig, S; Geigl, JB; Speicher, MR Genetic counseling in multiple pregnancies
Gynakol Geburtshilfliche Rundsch. 2007; 47(1): 9-13. Doi: 10.1159/000098120
PubMed FullText FullText_MUG

Short report/Letter

** Uhrig, S; Schlembach, D; Waldispuehl-Geigl, J; Schaffer, W; Geigl, J; Klopocki, E; Mundlos, S; Speicher, MR Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Am J Hum Genet. 2007; 81(4): 866-868. Doi: 10.1086/521338 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2006

Full paper/article (Journal)

** Fauth, C; Gribble, SM; Porter, KM; Codina-Pascual, M; Ng, BL; Kraus, J; Uhrig, S; Leifheit, J; Haaf, T; Fiegler, H; Carter, NP; Speicher, MR Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Hum Genet. 2006; 119(1-2):145-153 Doi: 10.1007/s00439-005-0103-z (- Case Report)
Web of Science PubMed FullText FullText_MUG Google Scholar

** Geigl, JB; Uhrig, S; Speicher, MR Multiplex-fluorescence in situ hybridization for chromosome karyotyping.
Nat Protoc. 2006; 1(3): 1172-1184. Doi: 10.1038/nprot.2006.160
Web of Science PubMed FullText FullText_MUG Google Scholar

2005

Full paper/article (Journal)

** Trochet, D; O'Brien, LM; Gozal, D; Trang, H; Nordenskjöld, A; Laudier, B; Svensson, PJ; Uhrig, S; Cole, T; Niemann, S; Munnich, A; Gaultier, C; Lyonnet, S; Amiel, J PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Am J Hum Genet. 2005; 76(3): 421-426. Doi: 10.1086/428366 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2002

Full paper/article (Journal)

** Martin, CL; Waggoner, DJ; Wong, A; Uhrig, S; Roseberry, JA; Hedrick, JF; Pack, SD; Russell, K; Zackai, E; Dobyns, WB; Ledbetter, DH Molecular rulers for calibrating phenotypic effects of telomere imbalance.
J Med Genet. 2002; 39(10):734-740 Doi: 10.1136/jmg.39.10.734 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2001

Full paper/article (Journal)

** Brown, J; Saracoglu, K; Uhrig, S; Speicher, MR; Eils, R; Kearney, L Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL).
Nat Med. 2001; 7(4):497-501 Doi: 10.1038/86581
Web of Science PubMed FullText FullText_MUG Google Scholar

** Jaeger, BR; Goehring, P; Schirmer, J; Uhrig, S; Lohse, P; Kreuzer, E; Reichart, B; Seidel, D Consistent lowering of clotting factors for the treatment of acute cardiovascular syndromes and hypercoagulability: a different pathophysiological approach.
Ther Apher. 2001; 5(4): 252-259. Doi: 10.1046/j.1526-0968.2001.00350.x
Web of Science PubMed FullText FullText_MUG

** Saracoglu, K; Brown, J; Kearney, L; Uhrig, S; Azofeifa, J; Fauth, C; Speicher, MR; Eils, R New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization.
Cytometry. 2001; 44(1):7-15 Doi: 10.1002/1097-0320(20010501)44:1<7::AID-CYTO1076>3.0.CO;2-G [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

2000

Full paper/article (Journal)

** Holinski-Feder, E; Reyniers, E; Uhrig, S; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, MR; Willems, PJ; Meitinger, T; Kooy, RF Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Am J Hum Genet. 2000; 66(1):16-25 Doi: 10.1086/302703 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

** Speicher, MR; Petersen, S; Uhrig, S; Jentsch, I; Fauth, C; Eils, R; Petersen, I Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative genomic hybridization, and multicolor bar coding.
Lab Invest. 2000; 80(7):1031-1041 Doi: 10.1038/labinvest.3780108 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

Short report/Letter

** Schmidt, H; Uhrig, S; Lederer, G; Murken, J; Speicher, MR; Schuffenhauer, S Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
J Med Genet. 2000; 37(10):804-807 Doi: 10.1136/jmg.37.10.804 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Correction

** Speicher, MR; Petersen, S; Uhrig, S; Jentsch, I; Fauth, C; Eils, R; Petersen, I Analysis of chromosomal alterations in non-small cell lung cancer by multiplex-FISH, comparative hybridization and multicolor bar coding (vol 80, pg 1031, 2000)
LAB INVEST 2000 80: 1145-1145. Doi: 10.1038/labinvest.3780108
Web of Science FullText FullText_MUG

1999

Full paper/article (Journal)

** Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Apacik, C; Cohen, M; Müller-Navia, J; Cremer, T; Murken, J; Speicher, MR Multiplex-FISH for pre- and postnatal diagnostic applications.
Am J Hum Genet. 1999; 65(2):448-462 Doi: 10.1086/302508 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Bartels, I; Bohlander, SK; Mehraein, Y; Speicher, MR; Uhrig, S; Zoll, B Molecular cytogenetic characterization of a familiar translocation (1;4) with a breakpoint telomeric to the most distal subtelomeric single copy probe known on chromosome 4.
AMER J HUM GENET 1999 65: -.
Web of Science

** Brown, J; Saracoglu, K; Uhrig, S; Knight, SJL; Lucas, SJA; Speicher, MR; Eils, R; Kearney, L Development of a multicolour FISH assay for subtelomeric chromosome rearrangements in leukaemia
CYTOGENET CELL GENET 1999 85: 10-10.
Web of Science

** Daumer-Haas, C; Uhrig, S; Minderer, S; Fauth, C; Speicher, MR Rare structural rearrangements in prenatal diagnosis characterized by M-FISH
CYTOGENET CELL GENET 1999 85: 37-37.
Web of Science

** Eils, R; Bolzer, A; Saracoglu, K; Kraus, J; Fauth, C; Uhrig, S; Speicher, MR High resolution analysis of chromosomes using new M-FISH strategies and multicolor bar coding.
AMER J HUM GENET 1999 65: -.
Web of Science

** Eils, R; Bolzer, A; Uhrig, S; Fauth, C; Kraus, J; Gangnus, R; Jentsch, I; Grabowski, M; Cleve, B; Azofeifa, J; Saracoglu, K; Speicher, MR Technical advances in multiplex-FISH (M-FISH) and other multicolor-FISH approaches
CYTOGENET CELL GENET 1999 85: 9-9.
Web of Science

** Kooy, RF; Reyniers, E; Uhrig, S; Schoepen, I; Golla, A; Wauters, J; Kroisel, P; Bossuyt, P; Rost, I; Jedele, K; Zierler, H; Schwab, S; Wildenauer, D; Speicher, M; Willems, PJ; Meitinger, T; Holinkski-Feder, E Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation t(3;16)(q29;p13.3).
AMER J HUM GENET 1999 65: A168-A168.
Web of Science

** Uhrig, S; Schuffenhauer, S; Fauth, C; Wirtz, A; Daumer-Haas, C; Minderer, S; Lederer, G; Apacik, C; Cohen, VM; Cremer, T; Murken, J; Speicher, MR Detection of cryptic rearrangements by M-FISH and multicolor-chromosomal-bar-codes for the elucidation of intrachromosomal rearrangements
CYTOGENET CELL GENET 1999 85: 168-168.
Web of Science

1998

Full paper/article (Journal)

** Eils, R; Uhrig, S; Saracoglu, K; Sätzler, K; Bolzer, A; Petersen, I; Chassery, J; Ganser, M; Speicher, MR An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH).
Cytogenet Cell Genet. 1998; 82(3-4):160-171 Doi: 10.1159/000015092
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Speicher, MR; Uhrig, S; Bolzer, A; Cleve, B; Kraus, J; Jauch, A; Eils, R Muliplex-FISH (M-FISH) in cancer and clinical genetics
EUR J HUMAN GENET 1998 6: 26-26.
Web of Science

1997

Abstract (Journal)

** Speicher, MR; Jauch, A; Eils, R; Uhrig, S; Bolzer, A; Cleve, B; Cremer, T; Bray-Ward, P; Ward, DC M-FISH with whole chromosome painting probes and subtelomere specific probes detects new non-randomly occurring chromosomal aberrations
AMER J HUM GENET 1997 61: -.
Web of Science

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