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Peter Miny

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Genetic Counseling

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van Kuilenburg André B P; Meijer Judith; Mul Adri N P M; Hennekam Raoul C M; Hoovers Jan M N; de Die-Smulders Christine E M; Weber Peter; Mori Andrea Capone; Bierau Jörgen; Fowler Brian; Macke Klaus; Sass Jörn Oliver; Meinsma Rutger; Hennermann Julia B; Miny Peter; Zoetekouw Lida; Vijzelaar Raymon; Nicolai Joost; Ylstra Bauke; Rubio-Gozalbo M Estela
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Filges Isabel; Röthlisberger Benno; Noppen Christoph; Boesch Nemya; Wenzel Friedel; Necker Judith; Binkert Franz; Huber Andreas R; Heinimann Karl; Miny Peter
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
Siitonen H Annika; Sotkasiira Jenni; Biervliet Martine; Benmansour Abdelmadjid; Capri Yline; Cormier-Daire Valerie; Crandall Barbara; Hannula-Jouppi Katariina; Hennekam Raoul; Herzog Denise; Keymolen Kathelijn; Lipsanen-Nyman Marita; Miny Peter; Plon Sharon E; Riedl Stefan; Sarkar Ajoy; Vargas Fernando R; Verloes Alain; Wang Lisa L; Kääriäinen Helena; Kestilä Marjo
The mutation spectrum in RECQL4 diseases.

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2009: van Kuilenburg André B P; Meijer Judith; Mul Adri N P M; Hennekam Raoul C M; Hoovers Jan M N; de Die-Smulders Christine E M; Weber Peter; Mori Andrea Capone; Bierau Jörgen; Fowler Brian; Macke Klaus; Sass Jörn Oliver; Meinsma Rutger; Hennermann Julia B; Miny Peter; Zoetekouw Lida; Vijzelaar Raymon; Nicolai Joost; Ylstra Bauke; Rubio-Gozalbo M Estela
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
Human genetics 2009;125(5-6):581-90.
2009: Filges Isabel; Röthlisberger Benno; Noppen Christoph; Boesch Nemya; Wenzel Friedel; Necker Judith; Binkert Franz; Huber Andreas R; Heinimann Karl; Miny Peter
Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
American journal of medical genetics. Part A 2009;149A(2):237-41.
2009: Siitonen H Annika; Sotkasiira Jenni; Biervliet Martine; Benmansour Abdelmadjid; Capri Yline; Cormier-Daire Valerie; Crandall Barbara; Hannula-Jouppi Katariina; Hennekam Raoul; Herzog Denise; Keymolen Kathelijn; Lipsanen-Nyman Marita; Miny Peter; Plon Sharon E; Riedl Stefan; Sarkar Ajoy; Vargas Fernando R; Verloes Alain; Wang Lisa L; Kääriäinen Helena; Kestilä Marjo
The mutation spectrum in RECQL4 diseases.
European journal of human genetics : EJHG 2009;17(2):151-8.
2008: Filges Isabel; Röthlisberger Benno; Wenzel Friedel; Heinimann Karl; Huber Andreas R; Miny Peter
Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.
American journal of medical genetics. Part A 2008;146A(21):2837-41.
2007: Zimpfer Annette; Miny Peter; Dombrowski Ulrike; Tolnay Markus; Meyer Peter; Bruder Elisabeth
Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch.
Fetal and pediatric pathology 2007;26(4):169-76.
2006: Miny P; De Geyter Ch; Holzgreve W
[New options in prenatal and preimplantation diagnosis of genetic disorders]
Therapeutische Umschau. Revue thérapeutique 2006;63(11):703-9.
2006: Lapaire O; Holzgreve W; Miny P; Hösli I; Hahn S; Tercanli S
[Recent advances in prenatal diagnostics]
Therapeutische Umschau. Revue thérapeutique 2006;63(11):683-91.
2006: Langlois Sylvie; Yong Paul J; Yong Siu Li; Barrett Irene; Kalousek Dagmar K; Miny Peter; Exeler Rita; Morris Kathy; Robinson Wendy P
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.
Prenatal diagnosis 2006;26(6):548-58.
2004: Plasilova M; Chattopadhyay C; Pal P; Schaub N A; Buechner S A; Mueller Hj; Miny P; Ghosh A; Heinimann K
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
Journal of medical genetics 2004;41(8):609-14.
2003: Miny P; Heinimann K; Tercanli S; Holzgreve W
[Genetic testing in pregnancy]
Therapeutische Umschau. Revue thérapeutique 2003;60(8):455-61.
2003: Frey-Mahn Gabriele; Behrendt Gabriele; Geiger Kathrin; Sohn Christof; Schäfer Dieter; Miny Peter
Y chromosomal polysomy: a unique case of 49,XYYYY in amniotic fluid cells.
American journal of medical genetics. Part A 2003;118A(2):184-6.
2002: Marteau Theresa M; Nippert Irma; Hall Sue; Limbert Caroline; Reid Margaret; Bobrow Martin; Cameron Alan; Cornel Martina; van Diem Mariet; Eiben Bernd; García-Miñaur Sixto; Goujard Janine; Kirwan Donna; McIntosh Karen; Soothill Peter; Verschuuren-Bemelmans Corien; de Vigan Catherine; Walkinshaw Stephen; Abramsky Lenore; Louwen Frank; Miny Peter; Horst Jürgen;
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
Prenatal diagnosis 2002;22(7):562-6.
2002: Miny Peter; Tercanli Sevgi; Holzgreve Wolfgang
Developments in laboratory techniques for prenatal diagnosis.
Current opinion in obstetrics & gynecology 2002;14(2):161-8.
2002: Tercanli S; Holzgreve W; Batukan C; Gerber A; Ermis H; Miny P
[Screening for aneuploidy by first trimester nuchal translucency measurement: results from a prospective trial including 1980 cases in a single center in Switzerland]
Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2002;23(1):22-6.
2001: Danzer E; Holzgreve W; Batukan C; Miny P; Tercanli S; Hoesli I
Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy.
Prenatal diagnosis 2001;21(10):848-51.
2001: Bartsch C; Aslan M; Köhler J; Miny P; Horst J; Holzgreve W; Rehder H; Fritz B
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
Fetal diagnosis and therapy 2001;16(5):265-73.
2001: Tercanli S; Miny P; Siebert M S; Hösli I; Surbek D V; Holzgreve W
Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;17(2):160-2.
2000: Held K; Eiben B; Miny P
The long-term effect of external quality assessment on performance in service cytogenetics.
Cytogenetics and cell genetics 2000;91(1-4):124-7.
1999: Miny P; Schloo R
[Is sterility a genetic burden?]
Therapeutische Umschau. Revue thérapeutique 1999;56(5):265-70.
1998: Meschede D; Louwen F; Nippert I; Holzgreve W; Miny P; Horst J
Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.
American journal of medical genetics 1998;80(4):330-4.
1997: Nekarda T; Kececioglu D; Kehl H G; Gehrmann J; Miny P; Vogt J
[A rare combination of partial trisomy 9 with pulmonary atresia]
Klinische Pädiatrie 1997;209(3):127-9.
1995: Miny P; Tercanli S; Gänshirt D; Holzgreve W
[Prenatal diagnosis]
Therapeutische Umschau. Revue thérapeutique 1995;52(12):792-800.
1995: Holzgreve W; Miny P; Schloo R; Tercanli S
[Maternal serum screening for detection of fetal chromosome abnormalities]
Der Gynäkologe 1995;28(5):280-8.
1995: Meschede D; Nekarda T; Kececioglu D; Löser H; Vogt J; Miny P; Horst J
Congenital heart disease in the 48,XXYY syndrome.
Clinical genetics 1995;48(2):100-2.
1995: Miny P; Koppers B; Dworniczak B; Bogdanova N; Holzgreve W; Tercanli S; Basaran S; Rehder H; Exeler R; Horst J
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.
American journal of medical genetics 1995;57(1):102-6.
1994: Holzgreve W; Garritsen H S; Tercanli S; Miny P; Nippert I; Gänshirt D
Noninvasive prenatal diagnosis. Strategy for a clinical trial.
Annals of the New York Academy of Sciences 1994;731():253-6.
1994: Gänshirt D; Garritsen H; Miny P; Holzgreve W
Fetal cells in maternal circulation throughout gestation.
Lancet 1994;343(8904):1038-9.
1993: Miny P; Holzgreve W; Horst J
Genetic factors in lissencephaly syndromes: a review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1993;9(7):413-7.
1993: Holzgreve W; Feil R; Louwen F; Miny P
Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1993;9(7):408-12.
1993: Holzgreve W; Nippert I; Gänshirt-Ahlert D; Schloo R; Miny P
Immediate and long-term applications of technology.
Clinical obstetrics and gynecology 1993;36(3):476-84.
1993: Gänshirt-Ahlert D; Börjesson-Stoll R; Burschyk M; Dohr A; Garritsen H S; Helmer E; Miny P; Velasco M; Walde C; Patterson D
Detection of fetal trisomies 21 and 18 from maternal blood using triple gradient and magnetic cell sorting.
American journal of reproductive immunology (New York, N.Y. : 1989) 1993;30(2-3):194-201.
1993: Fuhrmann W; Altland K; Jovanovic V; Holzgreve W; Miny P; Wenger D; Rauskolb R
First-trimester alpha-fetoprotein screening for Down syndrome.
Prenatal diagnosis 1993;13(3):215-8.
1993: Zygulska M; Eigel A; Pietrzyk J J; Miny P; Horst J
A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
Human mutation 1993;2(1):74-6.
1992: Dworniczak B; Koppers B; Kurlemann G; Holzgreve W; Horst J; Miny P
Uniparental disomy with normal phenotype.
Lancet 1992;340(8830):1285.
1992: Gänshirt-Ahlert D; Burschyk M; Garritsen H S; Helmer L; Miny P; Horst J; Schneider H P; Holzgreve W
Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood.
American journal of obstetrics and gynecology 1992;166(5):1350-5.
1992: Schloo R; Miny P; Holzgreve W; Horst J; Lenz W
Distal limb deficiency following chorionic villus sampling?
American journal of medical genetics 1992;42(3):404-13.
1992: Holzgreve W; Tercanli S; Schneider H P; Miny P
Prenatal karyotyping: when, how and whom?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1992;2(1):64-9.
1991: Miny P; Hammer P; Schloo R; Horst J; Tercanli S; Gerlach B; Holzgreve W
[Prenatal diagnosis with chorionic villi and placenta puncture biopsy in the 1st to 3d trimester of pregnancy: diagnostic value of chromosome studies]
Geburtshilfe und Frauenheilkunde 1991;51(9):694-703.
1991: Miny P; Hammer P; Gerlach B; Tercanli S; Horst J; Holzgreve W; Eiben B
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies.
Prenatal diagnosis 1991;11(8):581-9.
1991: Rezai K; Holzgreve W; Schloo R; Tercanli S; Horst J; Miny P
[Prenatal chromosome findings in sonographically conspicuous fetuses]
Geburtshilfe und Frauenheilkunde 1991;51(3):211-6.
1991: Hammer P; Holzgreve W; Karabacak Z; Horst J; Miny P
'False-negative' and 'false-positive' prenatal cytogenetic results due to 'true' mosaicism.
Prenatal diagnosis 1991;11(2):133-6.
1990: Holzgreve W; Miny P
[Transabdominal and transcervical chorion biopsies. Indications, techniques and current results]
Der Gynäkologe 1990;23(5):261-5.
1990: Gänshirt-Ahlert D; Pohlschmidt M; Gal A; Miny P; Horst J; Holzgreve W
Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood.
Clinical genetics 1990;38(1):38-43.
1990: Holzgreve W; Miny P; Gerlach B; Westendorp A; Ahlert D; Horst J
Benefits of placental biopsies for rapid karyotyping in the second and third trimesters (late chorionic villus sampling) in high-risk pregnancies.
American journal of obstetrics and gynecology 1990;162(5):1188-92.
1990: Holzgreve W; Gänshirt-Ahlert D; Burschyk M; Horst J; Miny P; Gal A; Pohlschmidt M
Detection of fetal DNA in maternal blood by PCR.
Lancet 1990;335(8699):1220-1.
1990: Holzgreve W; Miny P; Schloo R
'Late CVS' international registry compilation of data from 24 centres.
Prenatal diagnosis 1990;10(3):159-67.
1990: Gänshirt-Ahlert D; Pohlschmidt M; Gal A; Horst J; Miny P; Holzgreve W
Transabdominal placental biopsy in the second and third trimesters of pregnancy: what is the risk of maternal contamination in DNA diagnosis?
Obstetrics and gynecology 1990;75(3 Pt 1):320-3.
1990: Holzgreve W; Sevinchan E; Kohne E; Sevinchan S; Miny P; Horst J
Beta-thalassemia problems in the Turkish population in the F.R.G.
European journal of obstetrics, gynecology, and reproductive biology 1990;34(1-2):137-47.
1990: Aulehla-Scholz C; Basaran S; Agaoglu L; Arcasoy A; Holzgreve W; Miny P; Ridolfi F; Horst J
Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.
Human genetics 1990;84(2):195-7.
1990: Wenger D; Miny P; Holzgreve W; Fuhrmann W; Altland K
First trimester maternal serum alpha-fetoprotein screening for Down syndrome and other aneuploidies.
American journal of medical genetics. Supplement 1990;7():89-90.
1989: Holzgreve W; Miny P
Genetic aspects of fetal disease.
Seminars in perinatology 1989;13(4):260-77.
1989: Miny P; Basaran S; Pawlowitzki I H; Horst J; Westendorp A; Niedner W; Holzgreve W
Validity of cytogenetic analyses from trophoblast tissue throughout gestation.
American journal of medical genetics 1989;33(1):136-41.
1989: Miny P; Karabacak Z; Hammer P; Schulte-Vallentin M; Holzgreve W
Chromosome analyses from urinary sediment: postnatal confirmation of a prenatally diagnosed trisomy 20 mosaicism.
The New England journal of medicine 1989;320(12):809.
1989: Aulehla-Scholz C; Miny P; Holzgreve W; Epplen J T; Horst J
A pitfall in the prenatal diagnosis of beta-thalassaemia by RFLP.
Prenatal diagnosis 1989;9(2):140-1.
1989: Aulehla-Scholz C; Spiegelberg R; Miny P; Holzgreve W; Eigel A; Dworniczak B; Horst J
Direct sequencing of amplified DNA in prenatal diagnosis of beta-thalassaemia.
Lancet 1989;1(8633):326-7.
1989: Holzgreve W; Edel G; Gerlach B; Miny P
[Diagnosis, differential diagnosis and management of fetal ovarian cysts--experiences in 9 cases]
Archives of gynecology and obstetrics 1989;245(1-4):135-8.
1988: Miny P; Basaran S; Holzgreve W; Horst J; Pawlowitzki I H; Ngo T K
False negative cytogenetic result in direct preparations after CVS.
Prenatal diagnosis 1988;8(8):633.
1988: Basaran S; Miny P; Pawlowitzki I H; Horst J; Holzgreve W
Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy.
Prenatal diagnosis 1988;8(4):315-20.
1988: Fuhrmann W; Altland K; Köhler A; Holzgreve W; Jovanovic V; Rauskolb R; Pawlowitzki I H; Miny P
Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement.
Human genetics 1988;78(1):83-5.
1988: Westendorp A K; Miny P; Holzgreve W; De Wilde R; Aydinli K
Selective fetocide by direct intracardiac injection of isotonic potassium chloride.
Archives of gynecology and obstetrics 1988;244(1):59-62.
1987: Holzgreve W; Miny P; Basaran S; Fuhrmann W; Beller F K
Safety of placental biopsy in the second and third trimesters.
The New England journal of medicine 1987;317(18):1159.
1987: Holzgreve W; Aulehla-Scholz C; Griese E U; Oehme R; Miny P; Horst J
[Experiences with prenatal diagnosis of sickle cell anemia and thalassemias in the first trimester of pregnancy: various aspects for the obstetrician]
Geburtshilfe und Frauenheilkunde 1987;47(8):533-6.
1987: Pawlowitzki I H; Diekstall P; Schadel A; Miny P
Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.
American journal of medical genetics 1987;26(2):473-9.
1987: Holzgreve W; Miny P
Chorionic villi sampling with an echogenic catheter: experiences of the first 500 cases.
Journal of perinatal medicine 1987;15(3):244-50.
1986: Pawlowitzki I H; Urbaniok F; Miny P; Beller F K; Holzgreve W
Early fetal losses related to maternal age in year to year intervals.
Human reproduction (Oxford, England) 1986;1(5):345.
1986: Miny P; Basaran S; Kuwertz E; Holzgreve W; Pawlowitzki I H
Inv dup (15): prenatal diagnosis and postnatal follow-up.
Prenatal diagnosis 1986;6(4):303-6.
1986: Pawlowitzki I H; Diekstall P; Miny P; Balleisen L
Abnormal platelet function in Kallmann syndrome.
Lancet 1986;2(8499):166.
1986: Miny P; Holzgreve W; Basaran S; Behrenbeck J; Beller F K; Pawlowitzki I H
[Chromosome studies of chorionic villi: experiences following 118 diagnostic interventions]
Geburtshilfe und Frauenheilkunde 1986;46(5):314-8.
1986: Holzgreve W; Miny P; Basaran S; Gerbaulet K H; Beller F K; Pawlowitzki I H
[Prenatal diagnosis from chorionic villi: results in Münster]
Geburtshilfe und Frauenheilkunde 1986;46(5):312-3.
1985: Miny P; Holzgreve W; Basaran S; Gerbaulet K H; Beller F K; Pawlowitzki I H
Maternal cell contamination in chorionic villi cultures--exclusion by chromosomal fluorescence polymorphisms.
Clinical genetics 1985;28(3):262-3.
1984: Miny P; Pawlowitzki I H
Trisomy 20 mosaicism.
Prenatal diagnosis 1984;4(6):411-9.

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Peter Miny

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