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Items: 1 to 50 of 81

1.

Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U.

Am J Med Genet A. 2019 Feb;179(2):295-299. doi: 10.1002/ajmg.a.60700. Epub 2018 Dec 17.

2.

Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound.

Kroisel PM, Häusler M, Klaritsch P, Karpf E, Zebedin D, Tiran B, Pertl B, Wagner K.

Lancet. 2017 May 6;389(10081):1857-1858. doi: 10.1016/S0140-6736(17)31049-8. Epub 2017 May 4. No abstract available. Erratum in: Lancet. 2017 Oct 7;390(10103):1644.

PMID:
28495170
3.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

4.

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.

5.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.

6.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.

Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.

7.

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T.

J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8.

PMID:
22683032
8.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6. doi: 10.1002/ajmg.b.32015. Epub 2011 Dec 27.

PMID:
22213695
9.

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM.

Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7.

PMID:
22155368
10.

New mutations in the ATM gene and clinical data of 25 AT patients.

Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R.

Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2.

PMID:
21965147
11.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

12.

Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome.

Beitzke M, Enzinger C, Windpassinger C, Pfeifer D, Fazekas F, Woellner C, Grimbacher B, Kroisel PM.

J Neurol Sci. 2011 Oct 15;309(1-2):12-5. doi: 10.1016/j.jns.2011.07.045. Epub 2011 Aug 19.

PMID:
21855090
13.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.

14.

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

Schwarzbraun T, Obenauf AC, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher MR, Kroisel PM.

J Med Genet. 2009 May;46(5):341-4. doi: 10.1136/jmg.2008.064972. Epub 2009 Mar 5.

15.

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903.

PMID:
19086034
16.

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).

Kroepfl T, Petek E, Schwarzbraun T, Kroisel PM, Plecko B.

Clin Genet. 2008 May;73(5):492-5. doi: 10.1111/j.1399-0004.2008.00982.x. Epub 2008 Mar 12.

PMID:
18341605
17.

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.

Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.

Genet Couns. 2007;18(1):9-16.

PMID:
17515297
18.

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.

Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM.

Am J Med Genet A. 2007 Mar 15;143A(6):619-24. No abstract available.

PMID:
17318840
19.

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.

Eur J Hum Genet. 2007 Apr;15(4):432-40. Epub 2007 Jan 31.

20.

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, Petek E, Tönnies H, Neitzel H, Sperling K, Kroisel PM.

Am J Med Genet A. 2007 Jan 1;143A(1):92-4. No abstract available.

PMID:
17103455
21.

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.

Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB.

Mol Genet Genomics. 2007 Jan;277(1):71-81. Epub 2006 Oct 17.

PMID:
17043892
22.

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E.

Cytogenet Genome Res. 2006;115(1):84-9.

PMID:
16974087
23.

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E.

Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. Epub 2005 Nov 28.

PMID:
16829355
24.

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Ofner L, Raedle J, Windpassinger C, Schwarzbraun T, Kroisel PM, Wagner K, Petek E.

J Hum Genet. 2006;51(2):141-6. Epub 2005 Dec 20.

PMID:
16365682
25.

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.

Singer G, Schalamon J, Ainoedhofer H, Petek E, Kroisel PM, Höllwarth ME.

J Pediatr Surg. 2005 Nov;40(11):e47-50.

PMID:
16291141
26.

[Genetic risk factors in schizophrenia].

Fabisch H, Kroisel PM, Fabisch K.

Fortschr Neurol Psychiatr. 2005 Nov;73 Suppl 1:S44-50. Review. German.

PMID:
16270244
27.

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

Hörl G, Kroisel PM, Wagner E, Tiran B, Petek E, Steyrer E.

Atherosclerosis. 2006 Jul;187(1):101-9. Epub 2005 Oct 10.

PMID:
16216249
28.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E.

Genomics. 2004 Sep;84(3):577-86.

PMID:
15498464
29.

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.

Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E.

Am J Med Genet A. 2004 Aug 15;129A(1):98-100. No abstract available.

PMID:
15266626
30.

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K.

Hum Genet. 2004 May;114(6):553-61. Epub 2004 Mar 10.

PMID:
15014980
31.

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry.

Hennerbichler S, Kroisel PM, Zierler H, Pertl B, Wintersteiger R, Dohr G, Sedlmayr P.

Prenat Diagn. 2003 Sep;23(9):710-5.

PMID:
12975779
32.

Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome.

Petek E, Pertl B, Tschernigg M, Bauer M, Mayr J, Wagner K, Kroisel PM.

Genet Couns. 2003;14(2):239-44.

PMID:
12872820
33.

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.

Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.

J Med Genet. 2003 Jul;40(7):520-5. No abstract available.

34.

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel PM.

J Hum Genet. 2003;48(6):283-7. Epub 2003 Apr 24.

PMID:
12836054
35.

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.

Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, Kroisel PM.

Clin Genet. 2003 Apr;63(4):297-302.

PMID:
12702163
36.

Human chromosome 7: DNA sequence and biology.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC.

Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.

37.

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.

Petek E, Plecko-Startinig B, Windpassinger C, Egger H, Wagner K, Kroisel PM.

J Med Genet. 2003 Apr;40(4):e47. No abstract available.

38.

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM.

Am J Med Genet A. 2003 Mar 1;117A(2):122-6.

PMID:
12567408
39.

Simultaneous occurrence of retinoblastoma and neurofibromatosis I in a young child.

Koestenberger M, Kroisel PM, Lackner H, Urban C.

Med Pediatr Oncol. 2003 Feb;40(2):124-5. No abstract available.

PMID:
12461800
40.

Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.

Windpassinger C, Kroisel PM, Wagner K, Petek E.

Cytogenet Genome Res. 2002;97(3-4):155-7.

PMID:
12438705
41.

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).

Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM.

Genet Couns. 2002;13(3):303-7.

PMID:
12416638
42.

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

Windpassinger C, Kroisel PM, Wagner K, Petek E.

Gene. 2002 Jun 12;292(1-2):25-31.

PMID:
12119096
43.

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry.

Hennerbichler S, Schmied R, Petek E, Kroisel PM, Pertl B, Tiran B, Dohr G, Wintersteiger R, Sedlmayr P.

Cytometry. 2002 Jun 1;48(2):87-92.

44.

[Psoriasis and hypogonadism in chronic blepharokeratoconjunctivitis. A case report].

Horwath-Winter J, Flögel I, Ramschak-Schwarzer S, Hofer A, Kroisel PM.

Ophthalmologe. 2002 May;99(5):380-3. German.

PMID:
12043294
45.

Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.

Tschernigg M, Petek E, Wagner K, Kroisel PM.

Genet Couns. 2002;13(1):29-33.

PMID:
12017235
46.

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection.

Kroisel PM, Wagner K, Zierler H, Petek E.

Prenat Diagn. 2002 Mar;22(3):267-9. No abstract available.

PMID:
11920908
47.

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.

Emberger W, Petek E, Kroisel PM, Zierler H, Wagner K.

Am J Med Genet. 2001 Dec 15;104(4):312-8. Review.

PMID:
11754067
48.

Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11).

Emberger W, Behmel A, Tschernigg M, Seewann HL, Petek E, Kroisel PM, Wagner K.

Cancer Genet Cytogenet. 2001 Aug;129(1):76-9.

PMID:
11520571
49.

Phenotype of five patients with Greig syndrome and microdeletion of 7p13.

Kroisel PM, Petek E, Wagner K.

Am J Med Genet. 2001 Aug 15;102(3):243-9.

PMID:
11484201
50.

No evidence for mutagenic effects of ribavirin: report of two normal pregnancies.

Hegenbarth K, Maurer U, Kroisel PM, Fickert P, Trauner M, Stauber RE.

Am J Gastroenterol. 2001 Jul;96(7):2286-7. No abstract available.

PMID:
11467687

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