Abramowicz, Marc J. : rechercher sur Z-Library

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1

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication

Jadoul, Michel, Dode, Catherine, Cosyns, Jean-Pierre, Abramowicz, Daniel, Georges, Bernard, Delpech, Marc, Pirson, Yves

Journal:

Kidney International

Année:

2001

Langue:

english

Fichier:

PDF, 4.23 MB

english, 2001

2

Novel mutations in prenatal diagnosis of primary microcephaly

Julie Desir, Marc Abramowicz, Yusuf Tunca

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 48 KB

english, 2006

3

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Julie Desir, Marc Abramowicz

Journal:

Orphanet Journal of Rare Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 687 KB

english, 2008

4

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

Remiche, Gauthier, Kadhim, Hazim, Abramowicz, Marc, Mavroudakis, Nicolas, Monnier, Nicole, Lunardi, Joël

Journal:

Neuromuscular Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2015

5

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly

Jacquemin, Valerie, Antoine, Mathieu, Duerinckx, Sarah, Massart, Annick, Desir, Julie, Perazzolo, Camille, Cassart, Marie, Thomas, Dominique, Segers, ValÃ©rie, Lecomte, Sophie, Abramowicz, Marc, Pirso

Journal:

Human Molecular Genetics

Année:

2020

Fichier:

PDF, 746 KB

2020

6

Slight instability of a FMR-1 allele over three generations in a family from the general population

Abramowicz, Marc J., Parma, Jasmine, Cochaux, Pascale

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 230 KB

english, 1996

7

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

Vilain, Catheline, Sznajer, Yves, Rypens, Fran�oise, D�sir, Daniel, Abramowicz, Marc J.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 193 KB

english, 1999

8

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

Jacques Poncin, Roger Abs, Brigitte Velkeniers, Maryse Bonduelle, Marc Abramowicz, Jean-Jacques Legros, Alain Verloes, Michel Meurisse, Luc Van Gaal, Christine Verellen, Lucien Koulischer, Albert Beck

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 378 KB

english, 1999

9

Re-analysis by fluorescence in situ hybridisation of spare embryos cultured until Day 5 after preimplantation genetic diagnosis for a 47, XYY infertile patient demonstrates a high incidence of diploid mosaic embryos: a case report

Serena Emiliani, Eric Gonzalez Merino, Marc Van den Bergh, Marc Abramowicz, Gilbert Vassart, Yvon Englert, Daniel Delneste

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 53 KB

english, 2000

10

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis

E. Nilufer Broeders, Daniel Abramowicz, Marc J. Abramowicz, Jasmine Parma

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 30 KB

english, 2004

11

Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis

Marc J. Abramowicz, Pascale Ribai, Monique Cordonnier

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 132 KB

english, 2005

12

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

Julie Desir, Marie Cassart, Philippe David, Patrick Van Bogaert, Marc Abramowicz

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 250 KB

english, 2008

13

Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

Patrick Van Bogaert, Regis Azizieh, Julie Désir, Alec Aeby, Linda De Meirleir, Jean-François Laes, Florence Christiaens, Marc J. Abramowicz

Journal:

Annals of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 725 KB

english, 2007

14

Increased expression of Ia antigens on B cells after neonatal induction of lymphoid chimerism in mice: Role of interleukin 4

Daniel Abramowicz, Jean-Marc Doutrelepont, Philippe Lambert, Philippe Van Der Vorst, Catherine Bruyns, Michel Goldman

Journal:

European Journal of Immunology

Année:

1990

Langue:

english

Fichier:

PDF, 790 KB

english, 1990

15

Persistence of anti-donor allohelper T cells after neonatal induction of allotolerance in mice

Daniel Abramowicz, Philippe Vandervorst, Catherine Bruyns, Jean-Marc Doutrelepont, Peter Vandenabeele, Michel Goldman

Journal:

European Journal of Immunology

Année:

1990

Langue:

english

Fichier:

PDF, 759 KB

english, 1990

16

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years

Rémy Demeester, Jasmine Parma, Pascale Cochaux, Gilbert Vassart, Marc J. Abramowicz

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 15 KB

english, 2001

17

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz, Daniel Christophe

Journal:

BMC Medical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 506 KB

english, 2004

18

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data

Yusuf Tunca, Sebahattin Vurucu, Jasmine Parma, Ridvan Akin, Julie Désir, Iskender Baser, Ali Ergun, Marc Abramowicz

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 168 KB

english, 2006

19

Tuberculosis presenting as acute hepatitis in a renal transplant recipient

Olivier Mat, Daniel Abramowicz, Marie-Odile Peny, Marc Struelens, Jean-Marc Doutrelepont, Michael Adler, Luc Pauw, Jean-Louis Vanherweghem, Paul Kinnaert, Pierre Vereerstraeten

Journal:

Transplant International

Année:

1994

Langue:

english

Fichier:

PDF, 588 KB

english, 1994

20

Inability of OKT3 to prevent donor-derived ABO hemolytic anemia in a kidney-pancreas transplant recipient

Jean-Marc Doutrelepont, Daniel Abramowicz, Micheline Lambermont, Paul Kinnaert, Jean-Louis Vanherweghem, Pierre Vereerstraeten, Michel Goldman, Luc Pauw

Journal:

Transplant International

Année:

1995

Langue:

english

Fichier:

PDF, 193 KB

english, 1995

21

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

Régis Azizieh, David Orduz, Patrick Van Bogaert, Tristan Bouschet, Wendy Rodriguez, Serge N. Schiffmann, Isabelle Pirson, Marc J. Abramowicz

Journal:

Molecular Neurobiology

Année:

2011

Langue:

english

Fichier:

PDF, 547 KB

english, 2011

22

HHV-8 is associated with recurrent Kaposi's sarcoma in a renal transplant recipient

Jean-Christophe Noel, Florence De Their, Michel Heenen, Isabelle Fayt, Daniel Abramowicz, Jean-Marc Doutrelepont

Journal:

Transplant International

Année:

1997

Langue:

english

Fichier:

PDF, 163 KB

english, 1997

23

Evolution of immunoglobulin and mannose binding protein levels after renal transplantation: association with infectious complications

Emine Nilufer Broeders, Karl Martin Wissing, Marc Hazzan, Lidia Ghisdal, Anh-Dung Hoang, Christian Noel, Françoise Mascart, Daniel Abramowicz

Journal:

Transplant International

Année:

2008

Langue:

english

Fichier:

PDF, 136 KB

english, 2008

24

‘From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility revisited’

Bernard Dan, Marc J Abramowicz

Journal:

Developmental Medicine & Child Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 68 KB

english, 2004

25

CF screening

VASSART, GILBERT, COCHAUX, PASCALE, ABRAMOWICZ, MARC

Journal:

Année:

1990

Fichier:

PDF, 151 KB

1990

26

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc, Désir, Julie

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 473 KB

english, 2010

27

Renal immunopathology in murine host-versus-graft disease

Florquin, Sandrine, Abramowicz, Daniel, de Heer, Emile, Bruijn, Jan Anthonie, Doutrelepont, Jean-Marc, Goldman, Michel, Hoedemaeker, Philip

Journal:

Kidney International

Année:

1991

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1991

28

High-dose glucocorticosteroids increase the procoagulant effects of OKT3

Abramowicz, Daniel, Pradier, Olivier, De Pauw, Luc, Kinnaert, Paul, Mat, Olivier, Surquin, Muriel, Doutrelepont, Jean-Marc, Vanherweghem, Jean-Louis, Capel, Paul, Vereerstraeten, Pierre

Journal:

Kidney International

Année:

1994

Langue:

english

Fichier:

PDF, 663 KB

english, 1994

29

10.1038/nbt1101-1011a

Albuquerque-Silva, João, Vassart, Gilbert, Lavinha, João, Abramowicz, Marc J.

Journal:

Nature Biotechnology

Année:

2001

Langue:

english

Fichier:

PDF, 25 KB

english, 2001

30

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

Pichon, Bruno, Vankerckhove, Sophie, Bourrouillou, Georges, Duprez, Laurence, Abramowicz, Marc J

Journal:

European Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 86 KB

english, 2004

31

Higher Degree of Chromosome Mosaicism in Preimplantation Embryos from Carriers of Robertsonian Translocation t(13;14) in Comparison with Embryos from Karyotypically Normal IVF Patients

Serena Emiliani, Eric Gonzalez-Merino, Marc Van den Bergh, Marc Abramowicz, Yvon Englert

Journal:

Journal of Assisted Reproduction and Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 596 KB

english, 2003

32

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

Julie Désir, Marie Cassart, Catherine Donner, Paul Coucke, Marc Abramowicz, Geert Mortier

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 236 KB

english, 2012

33

Bullet colic

Richard S. Levine, Carl J. Abramowicz, Howard M. Pollack, Marc P. Banner, John S. Wills, Norman I. Ristin

Journal:

Urologic Radiology

Année:

1985

Langue:

english

Fichier:

PDF, 274 KB

english, 1985

34

Tuberculosis presenting as acute hepatitis in a renal transplant recipient

Olivier Mat, Daniel Abramowicz, Marie-Odile Peny, Marc Struelens, Jean-Marc Doutrelepont, Michael Adler, Luc De Pauw, Jean-Louis Vanherweghem, Paul Kinnaert, Pierre Vereerstraeten

Journal:

Transplant International

Année:

1994

Langue:

english

Fichier:

PDF, 530 KB

english, 1994

35

Inability of OKT3 to prevent donor-derived ABO hemolytic anemia in a kidney-pancreas transplant recipient

Jean-Marc Doutrelepont, Daniel Abramowicz, Micheline Lambermont, Paul Kinnaert, Jean-Louis Vanherweghem, Pierre Vereerstraeten, Michel Goldman, Luc De Pauw

Journal:

Transplant International

Année:

1995

Langue:

english

Fichier:

PDF, 197 KB

english, 1995

36

Thyroid peroxidase gene promoter confers TSH responsiveness to heterologous reporter genes in transfection experiments

Marc J. Abramowicz, Gilbert Vassart, Daniel Christophe

Journal:

Biochemical and Biophysical Research Communications

Année:

1990

Langue:

english

Fichier:

PDF, 720 KB

english, 1990

37

Aneuploidy study in sperm and preimplantation embryos from nonmosaic 47,XYY men

Eric Gonzalez-Merino, Christine Hans, Marc Abramowicz, Yvon Englert, Serena Emiliani

Journal:

Fertility and Sterility

Année:

2007

Langue:

english

Fichier:

PDF, 110 KB

english, 2007

38

42-P Biological and clinical relevance of the luminex crossmatch: A single center study of 117 kidney transplant recipients

Elena Lazarova, Anne Lemy, Marc Andrien, Daniel Abramowicz, Michel Toungouz

Journal:

Human Immunology

Année:

2011

Langue:

english

Fichier:

PDF, 31 KB

english, 2011

39

RDC8 codes for an adenosine A2 receptor with physiological constitutive activity

Carine Maenhaut, Jacqueline Van Sande, Frédérick Libert, Marc Abramowicz, Marc Parmentier, Jean-Jacques Vanderhaegen, Jacques E. Dumont, Gilbert Vassart, Serge Schiffmann

Journal:

Biochemical and Biophysical Research Communications

Année:

1990

Langue:

english

Fichier:

PDF, 2.85 MB

english, 1990

40

Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy

Catherine L. Wetzburger, Nicole Van Regemorter, Henri B. Szliwowski, Marc J. Abramowicz, Patrick Van Bogaert

Journal:

Pediatric Neurology

Année:

1998

Langue:

english

Fichier:

PDF, 142 KB

english, 1998

41

TSH Receptor Mutations and Thyroid Disease

Laurence Duprez, Jasmine Parma, Jacqueline Van Sande, Patrice Rodien, Jacques E. Dumont, Gilbert Vassart, Marc Abramowicz

Journal:

Trends in Endocrinology & Metabolism

Année:

1998

Langue:

english

Fichier:

PDF, 836 KB

english, 1998

42

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15

C. Ruth Jamieson, Cédric Govaerts, Marc J. Abramowicz

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 93 KB

english, 1999

43

Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32

C. Ruth Jamieson, Jean-Pierre Fryns, Jos Jacobs, Gert Matthijs, Marc J. Abramowicz

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 369 KB

english, 2000

44

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc J. Abramowicz, Ganesh H. Mochida, Raoul C.M. Hennekam, Eamonn R. Maher, Jean-Pierre Fryns, Abdulrahman Alswaid, Hu

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 661 KB

english, 2003

45

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators

Catherine Donner, Philippe Simon, Adil Karioun, Danielle Delneste, Marc Abramowicz, Pascale Cochaux, Frederic Rodesch

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

1995

Langue:

english

Fichier:

PDF, 886 KB

english, 1995

46

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria L

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2012

47

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

Plaisancié, Julie, Bailleul-Forestier, Isabelle, Gaston, Véronique, Vaysse, Fréderic, Lacombe, Didier, Holder-Espinasse, Muriel, Abramowicz, Marc, Coubes, Christine, Plessis, Ghislaine, Faivre, Lauren

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 241 KB

english, 2013

48

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination

Gauthier Remiche,Marc Abramowicz,Nicolas Mavroudakis

Journal:

Acta Neurologica Belgica

Année:

2013

Langue:

english

Fichier:

PDF, 178 KB

english, 2013

49

Incidence of Chromosomal Mosaicism in Human Embryos at Different Developmental Stages Analyzed by Fluorescence In Situ Hybridization

Gonzalez-Merino, Eric, Emiliani, Serena, Vassart, Gilbert, Van den Bergh, Marc, Vannin, Anne-Sophie, Abramowicz, Marc, Delneste, Danièle, Englert, Yvon

Journal:

Genetic Testing

Année:

2003

Langue:

english

Fichier:

PDF, 194 KB

english, 2003

50

Comparison of the Validity of Preimplantation Genetic Diagnosis for Embryo Chromosomal Anomalies by Fluorescence In Situ Hybridization on One or Two Blastomeres

Emiliani, Serena, Gonzalez-Merino, Eric, Englert, Yvon, Abramowicz, Marc

Journal:

Genetic Testing

Année:

2004

Langue:

english

Fichier:

PDF, 100 KB

english, 2004