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Items: 1 to 50 of 102

1.

An excess of chromosome 1 breakpoints in male infertility.

Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N.

Eur J Hum Genet. 2004 Dec;12(12):993-1000.

2.

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.

Golla A, Rost I, Jedele KB, Albert A, Murken J, Holinski-Feder E.

Am J Med Genet. 2002 Jan 1;107(1):18-25.

PMID:
11807862
3.

AcroM fluorescent in situ hybridization analyses of marker chromosomes.

Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.

Hum Genet. 2001 Aug;109(2):152-8.

PMID:
11511920
4.

Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.

Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S.

J Med Genet. 2000 Oct;37(10):804-7. No abstract available.

5.

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.

Holinski-Feder E, Müller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohsea P, Murken J, Meitinger T.

J Biochem Biophys Methods. 2001 Jan 30;47(1-2):21-32.

PMID:
11179758
6.

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, Jedele KB, Gasteiger M, Lenski C, Murken J, Golla A.

Am J Med Genet. 1999 Sep 10;86(2):102-6.

PMID:
10449641
7.

Multiplex-FISH for pre- and postnatal diagnostic applications.

Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR.

Am J Hum Genet. 1999 Aug;65(2):448-62.

8.

[29-year-old patient with gynecomastia and small testis].

Brand S, Strom TM, Weber MM, Schuffenhauer S, Murken J, Engelhardt D.

Internist (Berl). 1999 Apr;40(4):437-41. German. No abstract available.

PMID:
10354944
9.

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S.

Am J Med Genet. 1999 Apr 23;83(5):425-6. No abstract available.

PMID:
10232757
10.

[Ethical problems within the context of genetic counseling and diagnosis].

Murken J.

Internist (Berl). 1999 Mar;40(3):286-93. Review. German. No abstract available.

PMID:
10205754
11.

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.

Schuffenhauer S, Leifheit HJ, Lichtner P, Peters H, Murken J, Emmerich P.

J Med Genet. 1999 Mar;36(3):233-6.

12.

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.

Brandau O, Nyakatura G, Jedele KB, Platzer M, Achatz H, Ross M, Murken J, Rosenthal A, Meindl A.

Eur J Hum Genet. 1998 Sep-Oct;6(5):459-66.

13.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2).

Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T.

Eur J Hum Genet. 1998 May-Jun;6(3):213-25.

14.

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR.

Nat Genet. 1998 Oct;20(2):129-35.

PMID:
9771704
15.

Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues.

Jedele KB, Wahl D, Chahrokh-Zadeh S, Wirtz A, Murken J, Holinski-Feder E.

Clin Genet. 1998 Aug;54(2):148-51.

PMID:
9761394
16.
17.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.

J Med Genet. 1997 Aug;34(8):683-4.

18.

Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.

Schuffenhauer S, Kobelt A, Daumer-Haas C, Löffler C, Müller G, Murken J, Meitinger T.

Am J Med Genet. 1996 Oct 2;65(1):56-9.

PMID:
8914742
19.

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

von Gernet S, Schuffenhauer S, Golla A, Lichtner P, Balg S, Mühlbauer W, Murken J, Fairley J, Meitinger T.

Am J Med Genet. 1996 May 3;63(1):177-84.

PMID:
8723106
20.

A heritable folate-sensitive fragile site on chromosome 2p 11.2 (FRA2L).

Schuffenhauer S, Lederer G, Murken J.

Chromosome Res. 1996 Apr;4(3):252-4. No abstract available.

PMID:
8793213
21.

DiGeorge syndrome and partial monosomy 10p: case report and review.

Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T.

Ann Genet. 1995;38(3):162-7. Review.

PMID:
8540688
22.

A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene.

Schmucker B, Meindl A, Achatz H, Mittermüller J, Krüger G, Hergersberg M, Spiegel R, Schinzel A, Belohradsky BH, Murken J, et al.

Immunodeficiency. 1995;5(3):187-92.

PMID:
7749438
23.

Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome.

Rudolph G, Blum WF, Jenne EW, Schöning M, Enders H, Meitinger T, Murken JD, Kampik A.

Am J Med Genet. 1994 Apr 1;50(2):204-10.

PMID:
7516626
24.

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J.

Nat Genet. 1993 Dec;5(4):376-80.

PMID:
8298646
25.

De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy.

Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J.

Clin Genet. 1992 Nov;42(5):246-50.

PMID:
1486702
26.

[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases].

Gasser T, Trenkwalder C, Meitinger T, Witt TN, Murken J, Oertel WH.

Nervenarzt. 1991 Oct;62(10):590-608. Review. German.

PMID:
1749451
27.

Trisomy 18 in chorionic villus sampling: problems and consequences.

Wirtz A, Gloning KP, Murken J.

Prenat Diagn. 1991 Aug;11(8):563-7.

PMID:
1766931
28.

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Meitinger T, Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A.

Am J Hum Genet. 1990 Oct;47(4):664-9. Erratum in: Am J Hum Genet 1990 Nov;47(5):883.

29.

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics.

Jauch A, Daumer C, Lichter P, Murken J, Schroeder-Kurth T, Cremer T.

Hum Genet. 1990 Jul;85(2):145-50.

PMID:
2370043
30.

[Psychosocial aspects of the decision to utilize prenatal diagnosis--results of an empirical study].

Scholz C, Endres M, Zach K, Murken J.

Offentl Gesundheitswes. 1989 Jun;51(6):278-84. German.

PMID:
2526936
31.

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).

Meitinger T, Fraser NA, Lorenz B, Zrenner E, Murken J, Craig IW.

Hum Genet. 1989 Feb;81(3):283-6.

PMID:
2921039
32.

[Subjective experience of prenatal diagnosis and genetic counseling].

Endres M, Scholz C, Murken J.

Arch Gynecol Obstet. 1989;245(1-4):1070-2. German.

PMID:
2802688
33.

[Change in the course of blindness in childhood].

Schmidt U, Murken J, Klauss V.

Klin Monbl Augenheilkd. 1988 Nov;193(5):457-64. German.

PMID:
3145356
34.

[Study of fetal blood].

Gloning KP, Murken J, Brusis E.

Dtsch Med Wochenschr. 1988 Oct 28;113(43):1680-1. German. No abstract available.

PMID:
3181019
35.

Another false-negative finding on placental sampling.

Wirtz A, Seidel H, Brusis E, Murken J.

Prenat Diagn. 1988 May;8(4):321. No abstract available.

PMID:
3399486
36.

[The 13q14 deletion syndrome].

Lund OE, Murken JD.

Fortschr Ophthalmol. 1985;82(4):385-7. German. No abstract available.

PMID:
4054790
37.

[Medical genetics and genetic counseling].

Murken J.

MMW Munch Med Wochenschr. 1983 Jul 1;125(26):580-2. German. No abstract available.

PMID:
6225015
38.

New chromosomal dysmorphic syndromes. 4. Trisomy 12p.

Stengel-Rutkowski S, Albert A, Murken JD, Zahn-Messow K, Rodewald A, Zankl M, Saule H, Stene J.

Eur J Pediatr. 1981 Jul;136(3):249-62.

PMID:
7262097
39.

Course of pregnancy and family history in children with malformations of the urinary tract.

Angerpointer TA, Horbach H, Murken JD.

Z Kinderchir. 1981 May;33(1):54-64.

PMID:
7257615
40.

Catamnestic investigations in children with malformations of the gastrointestinal tract and the abdominal wall.

Angerpointner T, Radtke W, Murken JD.

Z Kinderchir. 1981 Feb;32(2):129-44.

PMID:
6456621
41.

[Transsexualism and the H-Y antigen].

Eicher W, Spoljar M, Murken JD, Richter K, Cleve H, Stengel-Rutkowski S.

Fortschr Med. 1981 Jan 15;99(1-2):9-12. German.

PMID:
7203339
42.

Paternal age and Down's syndrome: data from prenatal diagnoses (DFG).

Stene J, Stene E, Stengel-Rutkowski S, Murken JD.

Hum Genet. 1981;59(2):119-24.

PMID:
6459986
43.

[Prenatal diagnosis in parents with a balanced structural chromosome aberration (author's transl)].

Wirtz A, Stengel-Rutkowski S, Stene J, Frankenberger R, Krauss C, Albert A, Götz-Sothmann M, Murken J.

Geburtshilfe Frauenheilkd. 1980 Jul;40(7):575-92. German.

PMID:
6448763
44.

[Transexuality and X-Y antigen (author's transl)].

Eicher W, Spoljar M, Richter K, Cleve H, Murken JD, Stengel-Rutkowski S, Steindl E.

Geburtshilfe Frauenheilkd. 1980 Jun;40(6):529-40. German.

PMID:
7409418
45.

[Causal genesis of Hirschsprung's disease. Family and pregnancy history in juvenile patients].

Angerpointner TA, Radtke W, Murken JD, Hecker WC.

MMW Munch Med Wochenschr. 1980 Apr 18;122(16):585-6. German. No abstract available.

PMID:
6771545
46.

[Prenatal diagnosis--a corner-post in preventive medicine].

Murken JD, Albert A, Endres M, Götz-Sothmann M, Stengel-Rutkowski S, Strobl-Wildemann G, Warbanow B, Wirtz A.

MMW Munch Med Wochenschr. 1980 Apr 18;122(16):579-81. German. No abstract available.

PMID:
6771544
47.

[Interruption of pregnancy based on prenatal diagnosis].

Murken JD, Stengel-Rutkowski S, Wirtz A.

Hautarzt. 1980;31 Suppl 4:25-30. German.

PMID:
7399930
48.

A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881.

Rodewald A, Cleve H, Stengel-Rutkowski S, Wirtz A, Murken JD, DiValerio M, Mulivor RA, Greene AE, Coriell LL.

Cytogenet Cell Genet. 1980;27(4):267. No abstract available.

PMID:
6777119
49.

H-Y antigen in trans-sexuality.

Eicher W, Spoljar M, Cleve H, Murken JD, Richter K, Stangel-Rutkowski S.

Lancet. 1979 Nov 24;2(8152):1137-8. No abstract available.

PMID:
91872
50.

[Possibilities of genetic counseling for prenatal diagnosis in pediatric practice].

Murken JD, Stengel-Rutkowski S, Zahn V, Jensen M.

Fortschr Med. 1979 Sep 13;97(34):1443-7. German. No abstract available.

PMID:
159245

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