Kosztolányi, György: search on Z-Library

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1

Females with PDHA1 gene mutations: A diagnostic challenge

Marjolein Willemsen, Richard J.T. Rodenburg, Alexandra Teszas, Lambert van den Heuvel, Gyorgy Kosztolanyi, Eva Morava

Journal:

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

2

Mild CF in a ΔF508/R347H compound heterozygote woman: does the manifestation of this genotype differ in the two sexes?

György Kosztolányi, Naseem Malik, Marcus Rutishauser

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 442 KB

english, 1996

3

435 Rehabilitation of spatial orientation during treatment of panic agoraphobic subjects

János Kállai, György Kóczán, Peter Kosztolányi, Anikó Osváth

Journal:

International Journal of Psychophysiology

Year:

1998

Language:

english

File:

PDF, 118 KB

english, 1998

4

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion

Bene, Judit, Nádasi, Edit, Kosztolányi, György, Méhes, Károly, Melegh, Béla

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

5

Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen, Stylianos E. Antonarakis, Mich

Journal:

Year:

2004

Language:

english

File:

PDF, 345 KB

english, 2004

6

A possible mosaic form of delayed centromere separation and aneuploidy

Károly Méhes, György Kosztolányi

Journal:

Year:

1992

Language:

english

File:

PDF, 144 KB

english, 1992

7

It is time to take timing seriously in clinical genetics

Kosztolányi, György

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 154 KB

english, 2014

8

Supernumerary digital flexion creases

György Kosztolányi, Károly Méhes

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 45 KB

english, 2003

9

Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome

György Kosztolányi

Journal:

Year:

1987

Language:

english

File:

PDF, 679 KB

english, 1987

10

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

Márta Czakó, Mariluce Riegel, Éva Morava, Albert Schinzel, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 106 KB

english, 2002

11

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome

Komlósi, Katalin, Duga, Balázs, Hadzsiev, Kinga, Czakó, Márta, Kosztolányi, György, Fogarasi, András, Melegh, Béla

Journal:

Molecular Cytogenetics

Year:

2015

Language:

english

File:

PDF, 923 KB

english, 2015

12

Clinical manifestations of genetic instability overlap one another

Károly Méhes, György Kosztolányi

Journal:

Pathology & Oncology Research

Year:

2004

Language:

english

File:

PDF, 242 KB

english, 2004

13

A novelIL2RGmutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency

Richard Kellermayer, Amy P. Hsu, József Stankovics, Péter Balogh, Kinga Hadzsiev, Ágnes Vojcek, László Maródi, Pál Kajtár, György Kosztolányi, Jennifer M. Puck

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 239 KB

english, 2006

14

Hypothesis: epigenetic effects will require a review of the genetics of child development

György Kosztolányi

Journal:

Journal of Community Genetics

Year:

2011

Language:

english

File:

PDF, 121 KB

english, 2011

15

Focus shifts in the Hungarian reimbursement system. Funding of orphan medicinal products for rare disease patients in Hungary: Financing of orphan medicines

Szegedi, Márta, Molnár, Mária Judit, Boncz, Imre, Kosztolányi, György

Journal:

Year:

2014

Language:

hungarian

File:

PDF, 118 KB

hungarian, 2014

16

Congenital chylothorax in Opitz G/BBB syndrome

Simone Funke, Richard Kellermayer, Márta Czakó, Joyce So, György Kosztolányi, Tibor Ertl

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

17

Premature centromere division of a translocation-carrier autosome

Károly Méhes, György Kosztolányi

Journal:

Year:

1990

Language:

english

File:

PDF, 203 KB

english, 1990

18

Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?

Károly Méhes, György Kosztolányi

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 198 KB

english, 1990

19

A response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?”

Stylianos E. Antonarakis, Alexandre Reymond, Olivier Menzel, Reidunn CJ Bekkeheien, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen, Michel

Journal:

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

20

Partial trisomy 22—an old case reexamined

György Kosztolányi, Erica M. Bühler

Journal:

Year:

1985

Language:

english

File:

PDF, 267 KB

english, 1985

21

Expanding the clinical spectrum of MYCN-related Feingold syndrome

Alexandra Tészás, Rowdy Meijer, Hans Scheffer, Petra Gyuris, György Kosztolányi, Hans van Bokhoven, Richard Kellermayer

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 148 KB

english, 2006

22

Károly Méhes (1936–2007)

György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

23

Inherited ring chromosomes: an analysis of published cases

György Kosztolányi, Károly Méhes, Ernest B. Hook

Journal:

Year:

1991

Language:

english

File:

PDF, 477 KB

english, 1991

24

Q-banding of human chromosomes after BUdR and BCdR treatment

Erica M. Bühler, Taiso Tsuchimoto, György Kosztolànyi, L. Pia Jurik

Journal:

Year:

1976

Language:

english

File:

PDF, 498 KB

english, 1976

25

No Chromosomal Instability in Offspring of Survivors of Childhood Malignancy

Katalin Bajnóczky, Seddiq Khezri, Pál Kajtár, Rozália Szücs, György Kosztolányi, Károly Méhes

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 83 KB

english, 1999

26

Decreased cell viability of fibroblasts from two patients with a ring chromosome: An in vitro reflection of growth failure?

Dr. György Kosztolányi, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 230 KB

english, 1987

27

No latent chromosome damage in oxygen-exposed premature neonates

Károly Méhes, Katalin Bajnóczky, Károly Adamovich, Seddiq Khezri, György Kosztolányi

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

28

Influence of Genetic Polymorphisms on Bone Disease of Preterm Infants

Funke, Simone, Morava, Éva, Czakó, Márta, Vida, Gabriella, Ertl, Tibor, Kosztolányi, György

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 272 KB

english, 2006

29

Prenatal Exclusion of Segmental Trisomy in Familial Chromosome 21 Pericentric Inversion by Fluorescence in situ Hybridization

Erika P. Tardy, András Tóth, György Kosztolányi

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 58 KB

english, 1997

30

Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients

Judit Kárteszi, Katalin Hollódy, Judit Bene, Éva Morava, Kinga Hadzsiev, Márta Czakó, Béla Melegh, Alexandra Tészás, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 31 KB

english, 2004

31

High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation

Nóra Kovács, Ilona Sárkány, Gabriella Mohay, Károly Adamovich, Tibor Ertl, György Kosztolányi, Richard Kellermayer

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 150 KB

english, 2006

32

The effect of SH-SS transition in the structural organization of mitotic chromosomes

György Kosztolányi, Erica M. Bühler

Journal:

Year:

1978

Language:

english

File:

PDF, 314 KB

english, 1978

33

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

Hadzsiev, Kinga, Komlosi, Katalin, Czako, Marta, Duga, Balazs, Szalai, Renata, Szabo, Andras, Postyeni, Etelka, Szabo, Titanilla, Kosztolanyi, Gyorgy, Melegh, Bela

Journal:

Molecular Cytogenetics

Year:

2016

Language:

english

File:

PDF, 975 KB

english, 2016

34

X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

Morava, Éva, Storcz, Judit, Kosztolányi, György

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 347 KB

english, 1996

35

Cell formation in the cortical layers of the developing human cerebellum

Hajnalka Ábrahám, Tamás Tornóczky, György Kosztolányi, László Seress

Journal:

International Journal of Developmental Neuroscience

Year:

2001

Language:

english

File:

PDF, 1.19 MB

english, 2001

36

α-thalassemia/mental retardation syndrome in a 45,X male

Richard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, Petra Gyuris, Adrienn Kozári, Béla Melegh, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 92 KB

english, 2005

37

A cryptic unbalanced translocation resulting in del 13q and dup 15q

Alexandra Tészás, Rikke S. Møller, Richard Kellermayer, Márta Czakó, Klaus W. Kjaer, Reinhard Ullmann, Béla Melegh, Niels Tommerup, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 111 KB

english, 2008

38

Premature Centromere Division in Schizophrenia? Preliminary Report

Méhes, Károly, Trixler, Mátyás, Tényi, Tamás, Kosztolányi, György

Journal:

International Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 139 KB

english, 2001

39

Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation

Richard Kellermayer, Judit Gyarmati, Márta Czakó, Alexandra Tészás, György Masszi, Tibor Ertl, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 89 KB

english, 2005

40

Cohen syndrome: A connective tissue disorder?

Prof. Károly Méhes, György Kosztolányi, Maria Kardos, Magdolna Horváth, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 175 KB

english, 1988

41

De novo complex chromosomal rearrangement in a woman with recurrent spontaneous abortion and one healthy daughter

László Timár, Judit Béres, György Kosztolányi, Irén Németh

Journal:

Year:

1991

Language:

english

File:

PDF, 114 KB

english, 1991

42

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Maasz, Anita, Komlosi, Katalin, Hadzsiev, Kinga, Szabo, Zsolt, Willems, Patrick, Gerlinger, Imre, Kosztolanyi, Gyorgy, Mehes, Karoly, Melegh, Bela

Journal:

Current Medicinal Chemistry

Year:

2008

Language:

english

File:

PDF, 249 KB

english, 2008

43

Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

Márta Czakó, Mariluce Riegel, Éva Morava, Katalin Bajnóczky, György Kosztolányi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 115 KB

english, 2004

44

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

Mariluce Riegel, Eva Morava, Marta Czakó, Gyórgy Kosztolányi, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 130 KB

english, 2001

45

The medical geneticist as expert in the transgenerational and developmental aspects of diseases

Kosztolányi, György, Cassiman, Jean-Jacques

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 112 KB

english, 2010

46

Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation

Dr. György Kosztolányi, János Weisenbach, Károly Méhes

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 387 KB

english, 1995

47

Cell proliferation correlates with the postconceptual and not with the postnatal age in the hippocampal dentate gyrus, temporal neocortex and cerebellar cortex of preterm infants

Hajnalka Ábrahám, Tamás Tornóczky, György Kosztolányi, László Seress

Journal:

Early Human Development

Year:

2004

Language:

english

File:

PDF, 561 KB

english, 2004

48

Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

Márta Czakó, Kinga Hadzsiev, Béla Melegh, György Kosztolányi

Journal:

Year:

2012

Language:

english

File:

PDF, 159 KB

english, 2012

49

A Patient With Rothmund-Thomson Syndrome and All Features of RAPADILINO

Kellermayer, Richard, Siitonen, H. Annika, Hadzsiev, Kinga, Kestilä, Marjo, Kosztolányi, György

Journal:

Archives of Dermatology

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

50

Minor Physical Anomalies and Chromosomal Fragility as Potential Markers in Schizophrenia. Preliminary Report

Trixler, Mátyás, Tényi, Tamás, Kosztolányi, György

Journal:

International Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

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