M. Petersen

发表

P. Willems, M. Petersen, Q. Wang, 2007, Clinical genetics.

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

W. Robinson, A. Schinzel, M. Petersen, 1999, American journal of medical genetics.

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.

D. Vassilopoulos, K. Brøndum‐Nielsen, G. Kitsos, 1997, American journal of medical genetics.

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

K. Brøndum‐Nielsen, K. Wulff, M. Petersen, 1995, American journal of medical genetics.

GENETICS OF SERUM LIPIDS AND LIPOPROTEINS

M. Povey, M. Petersen, G. E. Andersen, 1982, Acta paediatrica Scandinavica.

Status at 4–5 Years in 90 Children of Insulin-Dependent Diabetic Mothers

M. Petersen, 1989 .

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction

G. Karadima, D. Vassilopoulos, M. Petersen, 1999, Clinical genetics.

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18

G. Karadima, M. Petersen, A. Sertedaki, 1999, Journal of medical genetics.

The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype

S. Antonarakis, K. Blakemore, M. Petersen, 1991, Prenatal diagnosis.

Genetic counseling of medullary breast cancer patients

D. Yannoukakos, M. Petersen, N. Goutas, 2004, Clinical genetics.

Status at four years of age in 280 children weighing 2,300 g or less at birth.

G. Greisen, B. Friis‐Hansen, M. Petersen, 1990, Danish medical bulletin.

Prelingual Nonsyndromic Hearing Loss in Greece

D. Yannoukakos, J. Economides, A. Pampanos, 2002, ORL.

Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis

S. Dimauro, A. Konstantinidou, Y. Gyftodimou, 2006, Histopathology.

Early growth delay in diabetic pregnancy: relation to psychomotor development at age 4

J. Pedersen, G. Greisen, M. Petersen, 1988, British medical journal.

Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis.

M. Bugge, M. F. Christensen, M. Petersen, 1994, American journal of medical genetics.

Fatal congenital myopathy with actin filament deposits

H. Schmalbruch, A. Bornemann, M. Petersen, 1996, Acta Neuropathologica.

Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).

J. Brinch-Iversen, M. Petersen, G. Bruun-Petersen, 1994, Journal of medical genetics.

A report of pure 7p duplication syndrome and review of the literature

K. Mrasek, T. Liehr, S. Sifakis, 2006, American journal of medical genetics. Part A.

Molecular cytogenetic characterization and origin of two de novo duplication 9p cases.

E. Blennow, A. Tsezou, G. Karadima, 2000, American journal of medical genetics.

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

G. Karadima, I. Kennerknecht, M. Petersen, 2000, American journal of medical genetics.

Interstitial deletion 1p in a 30 year old woman.

M. Warburg, M. Petersen, 1987, Journal of medical genetics.

Trisomy 14 mosaicism in a 2 year old girl.

M. Petersen, L. Vejerslev, B. Beck, 1986, Journal of medical genetics.

FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population

P. Patsalis, I. Georgiou, M. Petersen, 1998, Genetic epidemiology.

Perinatal Growth Retardation in Preterm Infants

G. Greisen, M. Petersen, 1989, Acta paediatrica Scandinavica. Supplement.

ECEL1 mutation causes fetal arthrogryposis multiplex congenita

A. Petersen, H. Krarup, I. Pedersen, 2015, American journal of medical genetics. Part A.

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

F. Speleman, N. Van Roy, N. van Regemorter, 1994, American journal of medical genetics.

Prenatal diagnosis of hypochondroplasia: Report of two cases

S. Sifakis, G. Nasioulas, V. Velissariou, 2006, American journal of medical genetics. Part A.

A case of apparent trisomy 21 without the Down's syndrome phenotype.

J. Delabar, I. Kennerknecht, M. Petersen, 1997, Journal of medical genetics.

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

Z. Tong, G. Kitsos, K. Psilas, 2006, Journal of Medical Genetics.

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

F. Skovby, M. Petersen, H. Stibler, 1993, The Journal of pediatrics.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

C. Yapijakis, D. Vassilopoulos, V. Velissariou, 2002, Prenatal diagnosis.

Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors

M. Petersen, M. Petersen, C. Kroupis, 1999 .

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

D. Vassilopoulos, G. Kitsos, K. Psilas, 1996, Journal of medical genetics.

Placental involvement in glycogen storage disease type IV.

S. Dimauro, A. Konstantinidou, H. Akman, 2008, Placenta.

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

X. Estivill, J. Economides, R. Rabionet, 1999, Clinical genetics.

Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation

N. Apostolopoulos, A. Pampanos, M. Petersen, 2000, Clinical genetics.

Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece

A. Pampanos, M. Petersen, V. Iliadou, 2004, European Archives of Oto-Rhino-Laryngology and Head & Neck.

Status at Two Years in 121 Very Low Birth Weight Survivors Related to Neonatal Intraventricular Haemorrhage and Mode of Delivery

G. Greisen, M. Petersen, S. Pedersen, 1986, Acta paediatrica Scandinavica.

The Relation between Perinatal Conditions and Developmental Outcome in Low Birthweight Infants: Comparison of Two Cohorts

G. Greisen, B. Friis‐Hansen, M. Petersen, 1991, Acta paediatrica Scandinavica.