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Items: 1 to 50 of 51

1.

The role of genetics and genomics in clinical psychiatry.

Hoehe MR, Morris-Rosendahl DJ.

Dialogues Clin Neurosci. 2018 Sep;20(3):169-177. Review.

2.

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Whiffin N, Walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk AE, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan DP, Prasad SK, Morris-Rosendahl DJ, Barton PJR, Edwards E, Ware JS, Cook SA.

Genet Med. 2018 Oct;20(10):1246-1254. doi: 10.1038/gim.2017.258. Epub 2018 Jan 25.

3.

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.

Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A.

Genet Couns. 2015;26(4):415-23.

PMID:
26852512
4.

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC.

Clin Immunol. 2016 Mar;164:52-6. doi: 10.1016/j.clim.2016.01.010. Epub 2016 Jan 23.

5.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11.

PMID:
26751646
6.

LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.

Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U.

Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19.

PMID:
26494205
7.

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

Erdélyi LS, Mann WA, Morris-Rosendahl DJ, Groß U, Nagel M, Várnai P, Balla A, Hunyady L.

Kidney Int. 2015 Nov;88(5):1070-8. doi: 10.1038/ki.2015.181. Epub 2015 Jul 1.

PMID:
26131744
8.

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

Morris-Rosendahl DJ, Kaindl AM.

Mol Cell Probes. 2015 Oct;29(5):271-81. doi: 10.1016/j.mcp.2015.05.015. Epub 2015 Jun 4. Review.

9.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Holger T, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nünberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.

Genome Res. 2015 Apr;25(4):609. No abstract available.

10.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

Borck G, Hög F, Dentici ML, Tan PL, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg TL, Mandriani B, Fischetto R, Morris-Rosendahl DJ, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C.

Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5. Erratum in: Genome Res. 2015 Apr;25(4):609.

11.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G.

Hum Genet. 2015 Jan;134(1):45-51. doi: 10.1007/s00439-014-1487-4. Epub 2014 Sep 14.

PMID:
25218063
12.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.

PMID:
24842779
13.

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.

Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.

Neuromuscul Disord. 2014 Apr;24(4):321-4. doi: 10.1016/j.nmd.2014.01.009. Epub 2014 Jan 28.

PMID:
24556424
14.

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).

Puzik A, Morris-Rosendahl DJ, Rückauer KD, Otto C, Gessler P, Saueressig U, Hentschel R.

BMC Pediatr. 2014 Jan 17;14:13. doi: 10.1186/1471-2431-14-13.

15.

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.

Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.

16.

Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene.

Lindenthal V, Mainberger A, Morris-Rosendahl DJ, Löning L, Mayer W, Müller HL.

Klin Padiatr. 2013 Dec;225(7):407-12. doi: 10.1055/s-0033-1354388. Epub 2013 Oct 24.

PMID:
24158882
17.

Microdeletion 5q14.3 and anomalies of brain development.

Hotz A, Hellenbroich Y, Sperner J, Linder-Lucht M, Tacke U, Walter C, Caliebe A, Nagel I, Saunders DE, Wolff G, Martin P, Morris-Rosendahl DJ.

Am J Med Genet A. 2013 Sep;161A(9):2124-33. doi: 10.1002/ajmg.a.36020. Epub 2013 Jul 4.

PMID:
23824879
18.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.

19.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.

Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.

20.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PMID:
23420520
21.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.

Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.

22.

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E.

J Child Neurol. 2012 Dec;27(12):1534-40. doi: 10.1177/0883073811436326. Epub 2012 Mar 8.

PMID:
22408144
23.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB.

J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010.087528. Epub 2011 Mar 25.

24.

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A.

Mol Syndromol. 2010 Sep;1(3):99-112. Epub 2010 Sep 14.

25.

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.

Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22.

PMID:
20967465
26.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.

Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.

PMID:
20961758
27.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F.

Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26.

28.

A glossary of relevant genetic terms.

Morris-Rosendahl DJ.

Dialogues Clin Neurosci. 2010;12(1):116-20. No abstract available.

29.

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G.

Clin Genet. 2008 Nov;74(5):425-33. doi: 10.1111/j.1399-0004.2008.01093.x.

PMID:
18954413
30.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.

Neurology. 2007 Jul 31;69(5):442-7.

PMID:
17664403
31.

Filamin A mutation is one cause of FG syndrome.

Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ.

Am J Med Genet A. 2007 Aug 15;143A(16):1876-9.

PMID:
17632775
32.

Prenatal diagnosis of muscle-eye-brain disease.

Balci B, Morris-Rosendahl DJ, Celebi A, Talim B, Topaloglu H, Dinçer P.

Prenat Diagn. 2007 Jan;27(1):51-4.

PMID:
17154333
33.

The future of genetic testing for drug response.

Morris-Rosendahl DJ, Fiebich BL.

Dialogues Clin Neurosci. 2004 Mar;6(1):27-37.

34.

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

Bauer P, Laccone F, Rolfs A, Wüllner U, Bösch S, Peters H, Liebscher S, Scheible M, Epplen JT, Weber BH, Holinski-Feder E, Weirich-Schwaiger H, Morris-Rosendahl DJ, Andrich J, Riess O.

J Med Genet. 2004 Mar;41(3):230-2. No abstract available.

35.

An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.

Wittekindt OH, Visan V, Tomita H, Imtiaz F, Gargus JJ, Lehmann-Horn F, Grissmer S, Morris-Rosendahl DJ.

Mol Pharmacol. 2004 Mar;65(3):788-801.

PMID:
14978258
36.

A novel non-neuronal hSK3 isoform with a dominant-negative effect on hSK3 currents.

Wittekindt OH, Dreker T, Morris-Rosendahl DJ, Lehmann-Horn F, Grissmer S.

Cell Physiol Biochem. 2004;14(1-2):23-30.

37.

Are there anxious genes?

Morris-Rosendahl DJ.

Dialogues Clin Neurosci. 2002 Sep;4(3):251-60.

38.

A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients.

Staner L, Uyanik G, Correa H, Tremeau F, Monreal J, Crocq MA, Stefos G, Morris-Rosendahl DJ, Macher JP.

Am J Med Genet. 2002 Jul 8;114(5):553-7.

PMID:
12116193
39.

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O.

Ann Neurol. 2002 May;51(5):662. No abstract available.

PMID:
12112122
40.

The human genome: chromosome 22q11 deletion syndrome.

Morris-Rosendahl DJ, Back E.

Am J Psychiatry. 2002 Apr;159(4):527. No abstract available.

PMID:
11925287
41.

The human genome: detecting chromosomal deletions: Angelman and Prader-Willi syndromes.

Morris-Rosendahl DJ, Back E.

Am J Psychiatry. 2002 Mar;159(3):372. No abstract available.

PMID:
11869997
42.

Mutation screening of the KCNN3 gene reveals a rare frameshift mutation.

Bowen T, Williams N, Norton N, Spurlock G, Wittekindt OH, Morris-Rosendahl DJ, Williams H, Brzustowicz L, Hoogendoorn B, Zammit S, Jones G, Sanders RD, Jones LA, McCarthy G, Jones S, Bassett A, Cardno AG, Owen MJ, O'Donovan MC.

Mol Psychiatry. 2001 May;6(3):259-60. No abstract available.

43.

Stable methylation patterns in interspecific antelope hybrids and the characterization and localization of a satellite fraction in the Alcelaphini and Hippotragini.

Robinson TJ, Wittekindt O, Pasantes JJ, Modi WS, Schempp W, Morris-Rosendahl DJ.

Chromosome Res. 2000;8(7):635-43.

PMID:
11117360
44.

The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia.

Wittekindt O, Jauch A, Burgert E, Schärer L, Holtgreve-Grez H, Yvert G, Imbert G, Zimmer J, Hoehe MR, Macher JP, Chiaroni P, van Calker D, Crocq MA, Morris-Rosendahl DJ.

Neurogenetics. 1998 Aug;1(4):259-65.

PMID:
10732800
45.

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland.

Laccone F, Engel U, Holinski-Feder E, Weigell-Weber M, Marczinek K, Nolte D, Morris-Rosendahl DJ, Zühlke C, Fuchs K, Weirich-Schwaiger H, Schlüter G, von Beust G, Vieira-Saecker AM, Weber BH, Riess O.

Neurology. 1999 Sep 11;53(4):801-6.

PMID:
10489044
46.

hSKCa3: a candidate gene for schizophrenia?

Meissner B, Purmann S, Schürmann M, Zühlke C, Lencer R, Arolt V, Müller-Myhsok B, Morris-Rosendahl DJ, Schwinger E.

Psychiatr Genet. 1999 Jun;9(2):91-6.

PMID:
10412188
47.

Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios.

Wittekindt O, Schwab SG, Burgert E, Knapp M, Albus M, Lerer B, Hallmayer J, Rietschel M, Segman R, Borrmann M, Lichtermann D, Crocq MA, Maier W, Morris-Rosendahl DJ, Wildenauer DB.

Mol Psychiatry. 1999 May;4(3):267-70.

PMID:
10395217
48.

No association between the tyrosine hydroxylase microsatellite marker HUMTH01 and schizophrenia or bipolar I disorder.

Burgert E, Crocq MA, Bausch E, Macher JP, Morris-Rosendahl DJ.

Psychiatr Genet. 1998 Summer;8(2):45-8.

PMID:
9686421
49.

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?

Chandy KG, Fantino E, Wittekindt O, Kalman K, Tong LL, Ho TH, Gutman GA, Crocq MA, Ganguli R, Nimgaonkar V, Morris-Rosendahl DJ, Gargus JJ.

Mol Psychiatry. 1998 Jan;3(1):32-7.

PMID:
9491810
50.

Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: tentative association between B37 and schizophrenia.

Morris-Rosendahl DJ, Burgert E, Uyanik G, Mayerova A, Duval F, Macher JP, Crocq MA.

Am J Med Genet. 1997 May 31;74(3):324-30.

PMID:
9184318

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