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Items: 1 to 50 of 116

1.

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Ulrich M, Tinschert S, Siebert E, Franke I, Tüting T, Ulrich J, Schanze D, Wieland I, Zenker M.

Pigment Cell Melanoma Res. 2019 May;32(3):470-473. doi: 10.1111/pcmr.12761. Epub 2018 Dec 21. No abstract available.

PMID:
30548225
2.

Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.

Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, Wefeld-Neuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S.

EMBO J. 2018 Aug 1;37(15). pii: e96257. doi: 10.15252/embj.201696257. Epub 2018 Jun 19.

3.

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Zenker M, Tinschert S, Wieland I, Schanze D, Happle R.

Acta Derm Venereol. 2018 Apr 27;98(5):534-535. doi: 10.2340/00015555-2883. No abstract available.

4.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

5.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Delle Vigne S, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M.

Hum Mutat. 2017 Apr;38(4):451-459. doi: 10.1002/humu.23175. Epub 2017 Feb 7.

PMID:
28074573
6.

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome.

Happle R, Tinschert S.

Br J Dermatol. 2016 Nov;175(5):1108. doi: 10.1111/bjd.14924. Epub 2016 Sep 12. No abstract available.

PMID:
27484736
7.

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease.

Becker K, Siegert S, Toliat MR, Du J, Casper R, Dolmans GH, Werker PM, Tinschert S, Franke A, Gieger C, Strauch K, Nothnagel M, Nürnberg P, Hennies HC; German Dupuytren Study Group.

PLoS One. 2016 Jul 28;11(7):e0158101. doi: 10.1371/journal.pone.0158101. eCollection 2016.

8.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

9.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.

Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7.

PMID:
27302555
10.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
11.

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M.

PLoS One. 2015 Mar 16;10(3):e0119030. doi: 10.1371/journal.pone.0119030. eCollection 2015.

12.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

13.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.

Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26.

14.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.

Eur J Hum Genet. 2015 Jun;23(6):870-3. doi: 10.1038/ejhg.2014.210. Epub 2014 Oct 8.

15.

The importance of genetic susceptibility in Dupuytren's disease.

Becker K, Tinschert S, Lienert A, Bleuler PE, Staub F, Meinel A, Rößler J, Wach W, Hoffmann R, Kühnel F, Damert HG, Nick HE, Spicher R, Lenze W, Langer M, Nürnberg P, Hennies HC.

Clin Genet. 2015 May;87(5):483-7. doi: 10.1111/cge.12410. Epub 2014 May 15.

PMID:
24749973
16.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.

Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

17.

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, El Khassawna T, Stevenson DA, Elefteriou F, Kornak U, Raum K, Fratzl P, Mundlos S, Kolanczyk M.

PLoS One. 2014 Jan 21;9(1):e86115. doi: 10.1371/journal.pone.0086115. eCollection 2014.

18.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.

PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. Erratum in: PLoS One. 2014;9(11):e108840.

19.

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Hackmann K, Stadler A, Schallner J, Franke K, Gerlach EM, Schrock E, Rump A, Fauth C, Tinschert S, Oexle K.

Am J Med Genet A. 2013 Dec;161A(12):3144-9. doi: 10.1002/ajmg.a.36155. Epub 2013 Aug 16.

PMID:
24039006
20.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

21.

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S.

J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. No abstract available.

PMID:
23668231
22.

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.

Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S.

Am J Surg Pathol. 2013 Jun;37(6):898-905. doi: 10.1097/PAS.0b013e31827bc071.

PMID:
23598963
23.

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Wieland I, Tinschert S, Zenker M.

Am J Med Genet A. 2013 Apr;161A(4):889-91. doi: 10.1002/ajmg.a.35764. Epub 2013 Feb 22. No abstract available.

PMID:
23436452
24.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, Wollenberg A, Torrelo A, Bagazgoitia L, Diaz-Ley B, Tinschert S, Oschlies I, Singer S, Mickler M, Toll A, Landthaler M, Real FX, Hafner C.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

25.

A misplaced lncRNA causes brachydactyly in humans.

Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S.

J Clin Invest. 2012 Nov;122(11):3990-4002. doi: 10.1172/JCI65508. Epub 2012 Oct 24.

26.

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S.

Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20.

PMID:
22821547
27.

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen-Kaesbach G, Mütze U, Seemanova E, Tinschert S, Wieczorek D, Rosenberger G, Kutsche K.

Mol Syndromol. 2011 Dec;2(1):27-34. Epub 2011 Nov 12.

28.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Review.

PMID:
22561202
29.

Macrocerebellum: significance and pathogenic considerations.

Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E.

Cerebellum. 2012 Dec;11(4):1026-36. doi: 10.1007/s12311-012-0379-1.

30.

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH.

Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.

31.

Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria.

Adolphs N, Menneking H, Hoffmeister B, Tinschert S.

J Craniofac Surg. 2011 Nov;22(6):2135-40. doi: 10.1097/SCS.0b013e3182323cfc.

PMID:
22134251
32.

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K.

Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10.

PMID:
21834043
33.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

34.

Wnt signaling and Dupuytren's disease.

Dolmans GH, Werker PM, Hennies HC, Furniss D, Festen EA, Franke L, Becker K, van der Vlies P, Wolffenbuttel BH, Tinschert S, Toliat MR, Nothnagel M, Franke A, Klopp N, Wichmann HE, Nürnberg P, Giele H, Ophoff RA, Wijmenga C; Dutch Dupuytren Study Group; German Dupuytren Study Group; LifeLines Cohort Study; BSSH-GODD Consortium.

N Engl J Med. 2011 Jul 28;365(4):307-17. doi: 10.1056/NEJMoa1101029. Epub 2011 Jul 6.

35.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1.

Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L.

BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82.

36.

Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.

Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, Kaufmann D, Rosenbaum T, Mautner VF, Windt E, Wahlländer-Danek U, Wimmer K, Mundlos S, Peters H.

Twin Res Hum Genet. 2010 Dec;13(6):582-94. doi: 10.1375/twin.13.6.582.

PMID:
21142935
37.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA.

Am J Hum Genet. 2010 Dec 10;87(6):882-9. doi: 10.1016/j.ajhg.2010.10.026. Epub 2010 Nov 25.

38.

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A.

Invest Ophthalmol Vis Sci. 2011 Feb 3;52(2):695-700. doi: 10.1167/iovs.10-5740.

PMID:
21051722
39.

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U.

Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. No abstract available.

PMID:
20979196
40.

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254.

PMID:
20506354
41.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P.

Am J Med Genet A. 2010 Apr;152A(4):870-4. doi: 10.1002/ajmg.a.33301.

PMID:
20358596
42.

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, Otero M, Tsuchimochi K, Goldring MB, Luft FC, Bähring S.

Hum Mol Genet. 2010 Mar 1;19(5):848-60. doi: 10.1093/hmg/ddp553. Epub 2009 Dec 16.

43.

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum.

Rauscher C, Poretti A, Neuhann TM, Forstner R, Hahn G, Koch J, Tinschert S, Boltshauser E.

Neuropediatrics. 2009 Feb;40(1):43-6. doi: 10.1055/s-0029-1224100. Epub 2009 Jul 28.

PMID:
19639528
44.

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.

Titze S, Peters H, Währisch S, Harder T, Guse K, Buske A, Tinschert S, Harder A.

Eur J Hum Genet. 2010 Jan;18(1):81-7. doi: 10.1038/ejhg.2009.129. Erratum in: Eur J Hum Genet. 2010 Apr;18(4):509.

45.

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17.

PMID:
19298871
46.

Three-generational alkaptonuria in a non-consanguineous family.

Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S425-30. doi: 10.1007/s10545-008-0994-7. Epub 2008 Dec 22.

PMID:
19096913
47.

Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care.

Schulte TL, Liljenqvist U, Görgens H, Hackenberg L, Bullmann V, Tinschert S.

Acta Orthop Belg. 2008 Oct;74(5):714-9.

PMID:
19058713
48.

Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.

Happle R, Tinschert S.

Acta Derm Venereol. 2008;88(4):382-7. doi: 10.2340/00015555-0495.

49.

Czech dysplasia: report of a large family and further delineation of the phenotype.

Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM.

Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389.

PMID:
18553548
50.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.

Eur J Hum Genet. 2008 Feb;16(2):184-91. Epub 2007 Nov 28.

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