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Items: 1 to 50 of 59

1.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.

Boppudi S, Bögershausen N, Hove HB, Percin EF, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Lissewski C, Wieland I, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M.

Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29.

PMID:
26970110
2.

Basal ganglia pathology in ALS is associated with neuropsychological deficits.

Machts J, Loewe K, Kaufmann J, Jakubiczka S, Abdulla S, Petri S, Dengler R, Heinze HJ, Vielhaber S, Schoenfeld MA, Bede P.

Neurology. 2015 Oct 13;85(15):1301-9. doi: 10.1212/WNL.0000000000002017. Epub 2015 Sep 18.

PMID:
26385880
3.

Intermittent pre-excitation-syndrome in facio-scapulo-humeral muscular dystrophy.

Finsterer J, Stöllberger C, Gatterer E, Jakubiczka S.

Korean Circ J. 2014 Sep;44(5):348-50. doi: 10.4070/kcj.2014.44.5.348. Epub 2014 Sep 25.

4.

Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus.

Kekow M, Barleben M, Drynda S, Jakubiczka S, Kekow J, Brune T.

BMC Musculoskelet Disord. 2013 Nov 18;14:325. doi: 10.1186/1471-2474-14-325.

5.

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.

Schreiber S, Oldag A, Kornblum C, Kollewe K, Kropf S, Schoenfeld A, Feistner H, Jakubiczka S, Kunz WS, Scherlach C, Tempelmann C, Mawrin C, Dengler R, Schreiber F, Goertler M, Vielhaber S.

Muscle Nerve. 2013 Mar;47(3):385-95. doi: 10.1002/mus.23681. Epub 2013 Feb 4.

PMID:
23381770
6.

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T.

Eur J Hum Genet. 2012 Sep;20(9):933-7. doi: 10.1038/ejhg.2012.36. Epub 2012 Mar 14.

7.

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Jakubiczka S, Schröder C, Ullmann R, Volleth M, Ledig S, Gilberg E, Kroisel P, Wieacker P.

Sex Dev. 2010;4(3):143-9. doi: 10.1159/000302403. Epub 2010 May 4.

PMID:
20453475
8.

Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers.

Borucki K, Weikert C, Fisher E, Jakubiczka S, Luley C, Westphal S, Dierkes J.

Clin Biochem. 2009 Nov;42(16-17):1635-41. doi: 10.1016/j.clinbiochem.2009.08.011. Epub 2009 Sep 2.

PMID:
19732760
9.

Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.

Wieacker P, Apeshiotis N, Jakubiczka S, Volleth M, Wieland I.

Sex Dev. 2007;1(1):35-41. doi: 10.1159/000096237.

10.

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P.

Am J Med Genet A. 2007 Dec 1;143A(23):2810-4.

PMID:
18041775
11.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.

Clin Genet. 2007 Dec;72(6):506-16. Epub 2007 Oct 16.

PMID:
17941886
12.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.

Jakubiczka S, Wieland I, Wohlfahrt K, Niederstrasser N, Wieacker P.

Hum Genet. 2006 Feb;118(6):781. No abstract available.

PMID:
17297707
13.

Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550.

Jakubiczka S, Wieland I, Grieger M, Wieacker P.

Hum Genet. 2006 Feb;118(6):781. No abstract available.

PMID:
17297706
14.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549.

Jakubiczka S, Schulz S, Wieacker P.

Hum Genet. 2006 Feb;118(6):781. No abstract available.

PMID:
17297705
15.

Distribution of sex chromosomes in dysgenetic gonads of mixed type.

Röpke A, Kalinski T, Mohnike K, Sel S, Jakubiczka S, Pelz AF, Roessner A, Wieacker PF.

Cytogenet Genome Res. 2007;116(1-2):146-51.

PMID:
17268195
16.

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Weiss C, Jakubiczka S, Huebner A, Klopocki E, Kress W, Voit T, Hübner C, Schuelke M.

Muscle Nerve. 2007 Mar;35(3):396-401.

PMID:
17143888
17.

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Jakubiczka S, Bettecken T, Mohnike K, Schneppenheim R, Stumm M, Tönnies H, Volleth M, Wieacker P.

Eur J Pediatr. 2007 Jul;166(7):743-5. Epub 2006 Nov 8.

PMID:
17091258
18.

Dispermic chimerism identified during blood group determination and HLA typing.

Mosebach M, Parkner A, Jakubiczka S, Wieacker P, Heim MU.

Transfusion. 2006 Nov;46(11):1978-81.

PMID:
17076853
19.

Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.

Eckel H, Wimmer R, Volleth M, Jakubiczka S, Muschke P, Wieacker P.

Am J Med Genet A. 2006 Jun 1;140(11):1219-22.

PMID:
16652358
20.

Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1.

Vielhaber S, Jakubiczka S, Gaul C, Schoenfeld MA, Debska-Vielhaber G, Zierz S, Heinze HJ, Niessen HG, Kaufmann J.

Muscle Nerve. 2006 Aug;34(2):145-52.

PMID:
16642499
21.

Identification of Alu elements mediating a partial PMP22 deletion.

Matejas V, Huehne K, Thiel C, Sommer C, Jakubiczka S, Rautenstrauss B.

Neurogenetics. 2006 May;7(2):119-26. Epub 2006 Mar 29.

PMID:
16570190
22.

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.

Huebner A, Mann P, Rohde E, Kaindl AM, Witt M, Verkade P, Jakubiczka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K.

Mol Cell Biol. 2006 Mar;26(5):1879-87.

23.

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J.

Fertil Steril. 2006 Jan;85(1):135-8.

PMID:
16412743
24.

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A.

Hum Mutat. 2005 Sep;26(3):279-80.

PMID:
16088906
25.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P.

Hum Mutat. 2005 Aug;26(2):113-8.

PMID:
15959873
26.

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck-Lehmann U, Mohnike K, Thiele H, Zierler H, Brewer C, Wieacker P.

Horm Res. 2005;63(6):263-9. Epub 2005 May 26.

PMID:
15925895
27.

Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes.

Horn LC, Limbach A, Hoepffner W, Tröbs RB, Keller E, Froster UG, Richter CE, Jakubiczka S.

Pediatr Dev Pathol. 2005 Mar-Apr;8(2):197-203. Epub 2005 Mar 8.

PMID:
15747103
28.

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.

Am J Hum Genet. 2004 Jun;74(6):1209-15. Epub 2004 Apr 29.

29.

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.

Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF.

J Med Genet. 2004 May;41(5):e54. No abstract available.

30.

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.

Jakubiczka S, Vielhaber S, Kress W, Küpferling P, Reuner U, Kunath B, Wieacker P.

Neurogenetics. 2004 Feb;5(1):55-9. Epub 2003 Dec 10.

PMID:
14666402
31.
32.

Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion.

Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S.

Arch Neurol. 2003 Oct;60(10):1421-5.

PMID:
14568813
33.

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.

Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S.

J Neurol. 2003 Sep;250(9):1084-7.

PMID:
14504970
34.

Mapping of a further locus for X-linked craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Wolf A, Gerlach L, Krawczak M, Wieacker P.

Cytogenet Genome Res. 2002;99(1-4):285-8.

PMID:
12900576
35.
36.

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.

Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T.

Muscle Nerve. 2002 Apr;25(4):540-8.

PMID:
11932972
37.

Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.

Volleth M, Stumm M, Mohnike K, Kalscheuer VM, Jakubiczka S, Wieacker P.

Hum Hered. 2001;52(3):177-82.

PMID:
11588402
38.

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.

Jakubiczka S, Bettecken T, Koch G, Tüysüz B, Wollnik B, Wieacker P.

Clin Dysmorphol. 2001 Jul;10(3):197-201.

PMID:
11446414
39.

Female pseudohermaphroditism caused by caudal dysgenesis.

Wieacker P, Grumpelt U, Schulz T, Gharavi B, Avenarius S, Jakubiczka S, Stumm M.

Cytogenet Cell Genet. 2000;91(1-4):296-9. Review.

PMID:
11173872
40.

Chimerism in a fertile woman with 46,XY karyotype and female phenotype.

Sudik R, Jakubiczka S, Nawroth F, Gilberg E, Wieacker PF.

Hum Reprod. 2001 Jan;16(1):56-58.

PMID:
11139536
41.

Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.

Jakubiczka S, Mitulla B, Liehr T, Arnemann J, Lehrach H, Sudbrak R, Stumm M, Wieacker PF, Bettecken T.

Prenat Diagn. 2000 Oct;20(10):842-6.

PMID:
11038467
42.

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S.

Hum Genet. 2000 Mar;106(3):259-68.

PMID:
10798353
43.

The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin.

Dadze S, Wieland C, Jakubiczka S, Funke K, Schröder E, Royer-Pokora B, Willers R, Wieacker PF.

Mol Hum Reprod. 2000 Mar;6(3):207-14.

PMID:
10694266
44.

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia.

Knoke I, Jakubiczka S, Lehnert H, Wieacker P.

Andrologia. 1999 Jul;31(4):199-201.

PMID:
10470409
45.

Frequency of CFTR gene mutations in males participating in an ICSI programme.

Jakubiczka S, Bettecken T, Stumm M, Nickel I, Müsebeck J, Krebs P, Fischer C, Kleinstein J, Wieacker P.

Hum Reprod. 1999 Jul;14(7):1833-4.

PMID:
10402399
46.

Clinical and molecular aspects of androgen receptor defects.

Wieacker PF, Knoke I, Jakubiczka S.

Exp Clin Endocrinol Diabetes. 1998;106(6):446-53. Review.

PMID:
10079022
47.

A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.

Dörk T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J.

Hum Mutat. 1998;11(4):337-9.

PMID:
9554754
48.

A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor.

Knoke I, Jakubiczka S, Ottersen T, Göppinger A, Wieacker P.

Cancer Genet Cytogenet. 1997 Oct 15;98(2):139-41.

PMID:
9332480
49.

Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome.

Kloos DU, Jakubiczka S, Wienker T, Wolff G, Wieacker P.

Hum Genet. 1997 Sep;100(3-4):426-30.

PMID:
9272167
50.

Organization and expression of bovine TSPY.

Vogel T, Dechend F, Manz E, Jung C, Jakubiczka S, Fehr S, Schmidtke J, Schnieders F.

Mamm Genome. 1997 Jul;8(7):491-6.

PMID:
9195993

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