PubMed

Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H.

Nat Genet. 2009 Sep;41(9):1043. No abstract available. PMID: 19710717 [PubMed - indexed for MEDLINE]Related articles

CLCN2 variants in idiopathic generalized epilepsy.

Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H.

Nat Genet. 2009 Sep;41(9):954-5. No abstract available. PMID: 19710712 [PubMed - indexed for MEDLINE]Related articles

[Virtual endoscopy of the nose and paranasal sinuses in real-time. Surgical planning system "Sinus endoscopy" (SPS-SE)]

Strauss G, Limpert E, Fischer M, Hofer M, Kubisch C, Krüger A, Dietz A, Meixensberger J, Trantakis C, Strauss M, Preim B.

HNO. 2009 Aug;57(8):789-96. German. PMID: 19636516 [PubMed - indexed for MEDLINE]Related articles

New challenges for informed consent through whole genome array testing.

Netzer C, Klein C, Kohlhase J, Kubisch C.

J Med Genet. 2009 Jul;46(7):495-6. No abstract available. PMID: 19571117 [PubMed - indexed for MEDLINE]Related articles

The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample.

Karsak M, Malkin I, Toliat MR, Kubisch C, Nürnberg P, Zimmer A, Livshits G.

Hum Genet. 2009 Nov;126(5):629-36. Epub 2009 Jun 30.PMID: 19565271 [PubMed - in process]Related articles

Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura.

Tikka-Kleemola P, Kaunisto MA, Hämäläinen E, Todt U, Göbel H, Kaprio J, Kubisch C, Färkkilä M, Palotie A, Wessman M, Kallela M.

Cephalalgia. 2009 Nov;29(11):1224-31. Epub 2009 Apr 9.PMID: 19558538 [PubMed - in process]Related articles

Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube.

Miró X, Zhou X, Boretius S, Michaelis T, Kubisch C, Alvarez-Bolado G, Gruss P.

Dis Model Mech. 2009 Jul-Aug;2(7-8):412-8. Epub 2009 Jun 17.PMID: 19535498 [PubMed - indexed for MEDLINE]Related articles

Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

Borck G, Seewi O, Jung A, Schönau E, Kubisch C.

J Clin Endocrinol Metab. 2009 Jun;94(6):2106-9. Epub 2009 Mar 24.PMID: 19318451 [PubMed - indexed for MEDLINE]Related articles

Radiofrequency ablation after selective internal radiation therapy with Yttrium90 microspheres in metastatic liver disease-Is it feasible?

Hoffmann RT, Jakobs TF, Kubisch CH, Stemmler HJ, Trumm C, Tatsch K, Helmberger TK, Reiser MF.

Eur J Radiol. 2009 Mar 6. [Epub ahead of print]PMID: 19269763 [PubMed - as supplied by publisher]Related articles

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P.

Neuromuscul Disord. 2009 Mar;19(3):223-8. Epub 2009 Feb 8.PMID: 19208478 [PubMed - indexed for MEDLINE]Related articles

Renal cell carcinoma in patients with a solitary kidney after nephrectomy treated with radiofrequency ablation: Mid term results.

Hoffmann RT, Jakobs TF, Kubisch CH, Trumm C, Weber C, Siebels M, Helmberger TK, Reiser MF.

Eur J Radiol. 2009 Jan 30. [Epub ahead of print]PMID: 19181470 [PubMed - as supplied by publisher]Related articles

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.

Hum Mutat. 2009 Apr;30(4):641-8.PMID: 19177549 [PubMed - indexed for MEDLINE]Related articles

New genetic evidence for involvement of the dopamine system in migraine with aura.

Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C.

Hum Genet. 2009 Apr;125(3):265-79. Epub 2009 Jan 17.PMID: 19152006 [PubMed - indexed for MEDLINE]Related articles

Radiofrequency ablation in the treatment of osteoid osteoma-5-year experience.

Hoffmann RT, Jakobs TF, Kubisch CH, Trumm CG, Weber C, Duerr HR, Helmberger TK, Reiser MF.

Eur J Radiol. 2009 Jan 12. [Epub ahead of print]PMID: 19144485 [PubMed - as supplied by publisher]Related articles

Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families.

Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M.

J Dermatol Sci. 2009 Apr;54(1):54-6. Epub 2009 Jan 10. No abstract available. PMID: 19136236 [PubMed - indexed for MEDLINE]Related articles

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A.

Mov Disord. 2009 Feb 15;24(3):429-33.PMID: 19097176 [PubMed - indexed for MEDLINE]Related articles

Chromosomal microdeletions: minor imbalances with major consequences.

Kubisch C.

Neurology. 2009 Mar 3;72(9):782-3. Epub 2008 Dec 10. No abstract available. PMID: 19073943 [PubMed - indexed for MEDLINE]Related articles

Endoplasmic reticulum stress and the pancreatic acinar cell.

Kubisch CH, Logsdon CD.

Expert Rev Gastroenterol Hepatol. 2008 Apr;2(2):249-60. Review.PMID: 19072360 [PubMed - indexed for MEDLINE]Related articles

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J.

BMC Med Genet. 2008 Nov 11;9:99.PMID: 19014451 [PubMed - indexed for MEDLINE]Related articlesFree article

Sinus endoscopy--application of advanced GPU volume rendering for virtual endoscopy.

Krüeger A, Kubisch C, Straub G, Preim B.

IEEE Trans Vis Comput Graph. 2008 Nov-Dec;14(6):1491-8.PMID: 18989001 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.

Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, Becker C, Nürnberg P, Kubisch C, Wollnik B, Barakat A.

Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. No abstract available. PMID: 18973245 [PubMed - indexed for MEDLINE]Related articles

A high-density association screen of 155 ion transport genes for involvement with common migraine.

Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Färkkilä M, Hämaläinen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Göbel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A.

Hum Mol Genet. 2008 Nov 1;17(21):3318-31. Epub 2008 Aug 2.PMID: 18676988 [PubMed - indexed for MEDLINE]Related articlesFree article

Replication study of the insulin receptor gene in migraine with aura.

Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C.

Genomics. 2008 Jun;91(6):503-7. Epub 2008 May 2.PMID: 18455362 [PubMed - indexed for MEDLINE]Related articles

[Incidentaloma of the pancreas]

Kubisch CH, Flatz WH, Göke B.

Z Gastroenterol. 2008 Mar;46(3):292-6. Review. German. PMID: 18322885 [PubMed - indexed for MEDLINE]Related articles

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

Boulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A.

Mol Vis. 2007 Oct 2;13:1862-5.PMID: 17960123 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C.

Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41.PMID: 17680603 [PubMed - indexed for MEDLINE]Related articles

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG.

Hum Mol Genet. 2007 Jun 15;16(12):1488-94. Epub 2007 May 3.PMID: 17478476 [PubMed - indexed for MEDLINE]Related articlesFree article

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C.

Hum Mutat. 2007 Jun;28(6):638-9.PMID: 17437276 [PubMed - indexed for MEDLINE]Related articles

Secretagogues differentially activate endoplasmic reticulum stress responses in pancreatic acinar cells.

Kubisch CH, Logsdon CD.

Am J Physiol Gastrointest Liver Physiol. 2007 Jun;292(6):G1804-12. Epub 2007 Apr 12.PMID: 17431218 [PubMed - indexed for MEDLINE]Related articlesFree article

Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura.

Todt U, Freudenberg J, Goebel I, Heinze A, Heinze-Kuhn K, Rietschel M, Göbel H, Kubisch C.

Neurology. 2006 Nov 14;67(9):1707-9.PMID: 17101915 [PubMed - indexed for MEDLINE]Related articles

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C.

Nat Genet. 2006 Oct;38(10):1184-91. Epub 2006 Sep 10.PMID: 16964263 [PubMed - indexed for MEDLINE]Related articles

Long-term ethanol consumption alters pancreatic gene expression in rats: a possible connection to pancreatic injury.

Kubisch CH, Gukovsky I, Lugea A, Pandol SJ, Kuick R, Misek DE, Hanash SM, Logsdon CD.

Pancreas. 2006 Jul;33(1):68-76.PMID: 16804415 [PubMed - indexed for MEDLINE]Related articles

MTHFR C677T polymorphism and migraine with aura.

Todt U, Freudenberg J, Goebel I, Netzer C, Heinze A, Heinze-Kuhn K, Göbel H, Kubisch C.

Ann Neurol. 2006 Nov;60(5):621-2; author reply 622-3. No abstract available. PMID: 16800002 [PubMed - indexed for MEDLINE]Related articles

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.

Hum Mutat. 2006 Jul;27(7):633-9.PMID: 16752389 [PubMed - indexed for MEDLINE]Related articles

Early activation of endoplasmic reticulum stress is associated with arginine-induced acute pancreatitis.

Kubisch CH, Sans MD, Arumugam T, Ernst SA, Williams JA, Logsdon CD.

Am J Physiol Gastrointest Liver Physiol. 2006 Aug;291(2):G238-45. Epub 2006 Mar 30.PMID: 16574987 [PubMed - indexed for MEDLINE]Related articlesFree article

Haplotype-based systematic association studies of ATP1A2 in migraine with aura.

Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C.

Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):257-60.PMID: 16508935 [PubMed - indexed for MEDLINE]Related articles

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.

Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26. Erratum in: Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian]. PMID: 16501574 [PubMed - indexed for MEDLINE]Related articles

Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.

Madrid RE, Kubisch C, Hays AP.

Neurology. 2005 Oct 25;65(8):1301-3.PMID: 16247063 [PubMed - indexed for MEDLINE]Related articles

Cannabinoid receptor type 2 gene is associated with human osteoporosis.

Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A.

Hum Mol Genet. 2005 Nov 15;14(22):3389-96. Epub 2005 Oct 4.PMID: 16204352 [PubMed - indexed for MEDLINE]Related articlesFree article

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C.

Hum Mutat. 2005 Oct;26(4):315-21.PMID: 16110494 [PubMed - indexed for MEDLINE]Related articles

Protective role of heat shock protein 27 in gastric mucosal injury.

Ebert MP, Schäfer C, Chen J, Hoffmann J, Gu P, Kubisch C, Carl-McGrath S, Treiber G, Malfertheiner P, Röcken C.

J Pathol. 2005 Oct;207(2):177-84.PMID: 16041694 [PubMed - indexed for MEDLINE]Related articles

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R.

J Neurol. 2005 May;252(5):538-47. Epub 2005 Feb 23.PMID: 15726252 [PubMed - indexed for MEDLINE]Related articles

Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

Kubisch C, Ketelsen UP, Goebel I, Omran H.

Ann Neurol. 2005 Feb;57(2):303-4. No abstract available. PMID: 15668980 [PubMed - indexed for MEDLINE]Related articles

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG.

J Neurol Neurosurg Psychiatry. 2004 Sep;75(9):1349-51.PMID: 15314133 [PubMed - indexed for MEDLINE]Related articlesFree article

Overexpression of heat shock protein Hsp27 protects against cerulein-induced pancreatitis.

Kubisch C, Dimagno MJ, Tietz AB, Welsh MJ, Ernst SA, Brandt-Nedelev B, Diebold J, Wagner AC, Göke B, Williams JA, Schäfer C.

Gastroenterology. 2004 Jul;127(1):275-86.PMID: 15236192 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.

Ramírez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, Hasan C, Bode U, Kornak U, Kubisch C.

Hum Mutat. 2004 May;23(5):471-6.PMID: 15108279 [PubMed - indexed for MEDLINE]Related articles

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E.

Nat Genet. 2003 Jun;34(2):151-3.PMID: 12754508 [PubMed - indexed for MEDLINE]Related articles

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M.

Ann Neurol. 2003 Apr;53(4):512-20.PMID: 12666119 [PubMed - indexed for MEDLINE]Related articles

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A.

Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. Retraction in: Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. Nat Genet. 2009 Sep;41(9):1043. PMID: 12612585 [PubMed - indexed for MEDLINE]Related articles

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.

Bolz H, Ramírez A, von Brederlow B, Kubisch C.

Biochim Biophys Acta. 2001 Dec 30;1522(3):221-5.PMID: 11779638 [PubMed - indexed for MEDLINE]Related articles