Jan M. Cobben : rechercher sur Z-Library

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1

Pfeiffer syndrome type 2: Further delineation and review of the literature

Plomp, Astrid S., Hamel, Ben C.J., Cobben, Jan M., Verloes, Alain, Offermans, Jos P.M., Lajeunie, Elisabeth, Fryns, Jean Pierre, de Die-Smulders, Christine E.M.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 251 KB

english, 1998

2

Poland anomaly in mother and daughter

Jan M. Cobben, Peter H. Robinson, Antonie J. van Essen, Herman L. van der Wiel, Leo P. ten Kate

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 345 KB

english, 1989

3

Prevalence of lethal osteochondrodysplasias

Jan M. Cobben, Martina C. Cornel, Irene Dijkstra, Leo P. Ten Kate

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 154 KB

english, 1990

4

Trisomy 1q42→qter in a sister and brother: Further delineation of the “trisomy 1q42→qter Syndrome”

Corien C. Verschuuren-Bemelmans, Beike Leegte, Thea M. J. Hodenius, Jan M. Cobben

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 406 KB

english, 1995

5

Normal values for morphological abnormalities in school children

Johannes H.M. Merks, Heval M. Özgen, Theresia L.M. Cluitmans, Jaqueline M. van der Burg-van Rijn, Jan Maarten Cobben, Flora E. van Leeuwen, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 148 KB

english, 2006

6

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

Leonie A. Menke, Bwee Tien Poll-The, Sally-Ann Clur, Catia M. Bilardo, Allard C. van der Wal, Henny H. Lemmink, Jan Maarten Cobben

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 85 KB

english, 2008

7

Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

Mariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, Jaap Ottenkamp, Susanne Bauhuber, Bita Bozorgmehr, Martin Zenker, Jan M. Cobben

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 128 KB

english, 2008

8

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study

Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewo

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 383 KB

english, 2012

9

Chemically modified field-effect transistors; potentiometric Ag+ selectivity of PVC membranes based on macrocyclic thioethers

Zbigniew Brzozka, Peter L.H.M. Cobben, David N. Reinhoudt, Jilles J.H. Edema, Jan Buter, Richard M. Kellogg

Journal:

Analytica Chimica Acta

Année:

1993

Langue:

english

Fichier:

PDF, 397 KB

english, 1993

10

Syntheses of 1,3-disubstituted N-oxy-β-carbolines by the Pictet-Spengler reactions of N-oxy-tryptophan and -tryptamine derivatives

Pedro H.H. Hermkens, Jan H. van Maarseveen, Peter L.H.M. Cobben, Harry C.J. Ottenheijm, Chris G. Kruse, Hans W. Scheerent

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 1.05 MB

english, 1990

11

A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis

Gerrit Steege, Jan-Maarten Cobben, Jan Osinga, Hans Scheffer, Gert-Jan B. Ommen, Charles H. C. M. Buys

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 460 KB

english, 1995

12

The clinical spectrum of complete FBN1 allele deletions

Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 358 KB

english, 2010

13

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Hove, Hanne, Kjaergaard, Susanne, Kemp, Helena, Kingston, Helen, Lunt, Peter, Mansour, Sahar, Hastings, Rob, Cobben, Jan-Maarten, Gillessen-Kaesbach, Gabriele, Goodship, Judith

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 522 KB

english, 2011

14

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease

Cobben, Jan M, Breuning, Martijn H, Schoots, Coen, ten Kate, Leo P, Zerres, Klaus

Journal:

Kidney International

Année:

1990

Fichier:

PDF, 3.01 MB

1990

15

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Scheffer, Hans, Cobben, Jan Maarten, Mensink, Rob GJ, Stulp, Rein P, van der Steege, Gerrit, Buys, Charles HCM

Journal:

European Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 187 KB

english, 2000

16

Best practice guidelines for molecular analysis in spinal muscular atrophy

Scheffer, Hans, Cobben, Jan Maarten, Matthijs, Gert, Wirth, Brunhilde

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 155 KB

english, 2001

17

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, Isabel M. Nesbitt, Eline H. Zwikstra, Peter G.J. Nikkels, Sander R. Piersma, Silvina A. Fratantoni, Connie R. Jimenez, Margriet Huizer, Alice C. Morsman, Jan M. Cobben, Mirjam H.H.

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2009

18

Identification of Key Recombinants in Multiplex SMA Families

Gerrit van der Steege, Jan-Maarten Cobben, Christina Brahe, Jan Osinga, Stefania Zappata, Hans Scheffer, Giovanni Neri, Gert-Jan B. van Ommen, Leo P. ten Kate, Charles H.C.M. Buys

Journal:

Année:

1994

Fichier:

PDF, 269 KB

1994

19

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

Adri Mul, Hai-Yen Man, Inge B. Mathijssen, Eline A. Nannenberg, Hussein Sheikh Ali Mohamoud, Roos E. Winter, Jan Maarten Cobben, Jan M. Hoovers

Journal:

European Journal of Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 50 KB

english, 2005

20

Ectrodactyly with fibular aplasia: A separate entity?

Leonie A. Menke, Emilia K. Bijlsma, Anthonie J. van Essen, Marie-José H. van den Boogaard, Rick R. van Rijn, Jan Maarten Cobben

Journal:

European Journal of Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 467 KB

english, 2008

21

Long-term follow-up after bilateral Artisan aphakia intraocular lens implantation in two children with Marfan syndrome

Marije L. Sminia, Monica T.P. Odenthal, Liesbeth J.J.M. Prick, Jan M. Cobben, Maarten P. Mourits, Hennie J. Völker-Dieben

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Année:

2012

Langue:

english

Fichier:

PDF, 259 KB

english, 2012

22

Response

Jan Maarten Cobben, Marianne de Visser

Journal:

Neuromuscular Disorders

Année:

2009

Langue:

english

Fichier:

PDF, 41 KB

english, 2009

23

Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities

Daniela Q.C.M. Barge-Schaapveld, Alice S. Brooks, Maarten H. Lequin, Rosalinda van Spaendonk, R. Jeroen Vermeulen, Jan Maarten Cobben

Journal:

Pediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 674 KB

english, 2011

24

Cross talk of respiratory muscles: It is possible to distinguish different muscle activity?

Jeroen Hutten, Leo A. van Eykern, Jan M. Cobben, Wim M.C. van Aalderen

Journal:

Respiratory Physiology & Neurobiology

Année:

2007

Langue:

english

Fichier:

PDF, 232 KB

english, 2007

25

Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

Abdelmalik, Nadia, van Haelst, Mieke, Mancini, Grazia, Schrander-Stumpel, Connie, Marcus-Soekarman, Dominique, Hennekam, Raoul, Cobben, Jan Maarten

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 198 KB

english, 2013

26

Het Silver-Russell-syndroom in Nederland

Mw.drs. Thalia H.M. Lammers, Mw.dr. Mieke M. van Haelst, mw.dr. Mariëlle Alders, Dr. Jan.M. Cobben

Journal:

Tijdschrift voor Kindergeneeskunde

Année:

2012

Langue:

dutch

Fichier:

PDF, 170 KB

dutch, 2012

27

Does (K+Mg+Ca+P) fertilization lead to recovery of tree health in a nitrogen stressed Quercus rubra L. stand?

Andries W. Boxman, Peter L.W. Cobben, Jan G.M. Roelofs

Journal:

Environmental Pollution

Année:

1994

Langue:

english

Fichier:

PDF, 762 KB

english, 1994

28

Dysmorphic features in 2-year-old IVF/ICSI offspring

Jorien Seggers, Maaike L. Haadsma, Arend F. Bos, Maas Jan Heineman, Paul Keating, Karin J. Middelburg, Jacorina C. van Hoften, Hermine E. Veenstra-Knol, Joke H. Kok, Jan Maarten Cobben, Mijna Hadders-

Journal:

Early Human Development

Année:

2012

Langue:

english

Fichier:

PDF, 239 KB

english, 2012

29

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

Cobben, Jan M., Scheffer, Hans, De Visser, Marianne, Osinga, Jan, Frants, Rune, van der Steege, Gerrit, Wijmenga, Ciska, ten Kate, Leo P., van Ommen, Gert-Jan B., Buys, Charles H.C.M.

Journal:

Neuromuscular Disorders

Année:

1993

Langue:

english

Fichier:

PDF, 513 KB

english, 1993

30

MRI features associated with acute appendicitis

Leeuwenburgh, Marjolein M. N., Jensch, Sebastiaan, Gratama, Jan W. C., Spilt, Aart, Wiarda, Bart M., Es, H. Wouter, Cobben, Lodewijk P. J., Bossuyt, Patrick M. M., Boermeester, Marja A., Stoker, Jaap

Journal:

European Radiology

Année:

2014

Langue:

english

Fichier:

PDF, 290 KB

english, 2014

31

Accuracy and interobserver agreement between MR-non-expert radiologists and MR-experts in reading MRI for suspected appendicitis

Leeuwenburgh, Marjolein M.N., Wiarda, Bart M., Jensch, Sebastiaan, van Es, H. Wouter, Stockmann, Hein B.A.C., Gratama, Jan Willem C., Cobben, Lodewijk P.J., Bossuyt, Patrick M.M., Boermeester, Marja A

Journal:

European Journal of Radiology

Année:

2014

Langue:

english

Fichier:

PDF, 2.50 MB

english, 2014

32

Pectus excavatum and carinatum

Cobben, Jan M., Oostra, Roelof-Jan, van Dijk, Fleur S.

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 919 KB

english, 2014

33

The popliteal pterygium syndrome: an analysis of two families

Spauwen, Paul H.M., Cobben, Jan M., Gardeniers, Jean W.M.

Journal:

Journal of Cranio-Maxillofacial Surgery

Année:

1994

Langue:

english

Fichier:

PDF, 4.07 MB

english, 1994

34

GARGOYLISM

Te Meerman, GerardJ, Ten Kate, LeoP, Cobben, Jan-Maarten, Essen, TonVon, Buys, CharlesH.C.M, Halley, Dicky

Journal:

Année:

1936

Langue:

english

Fichier:

PDF, 365 KB

english, 1936

35

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WHERE SINGLE AFFECTED CHILD HAS DIED

Te Meerman, GerardJ, Ten Kate, LeoP, Cobben, Jan-Maarten, Essen, TonVon, Buys, CharlesH.C.M, Halley, Dicky

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 153 KB

english, 1988

36

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

de Roo, Marieke G.A., Abeling, Nico G.G.M., Majoie, Charles B., Bosch, Annet M., Koelman, Johannes H.T.M., Cobben, Jan M., Duran, Marinus, Poll-The, Bwee Tien

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 424 KB

english, 2014

37

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands

Stalpers, Xenia L., Verrips, Aad, Poll-The, Bwee Tien, Cobben, Jan-Maarten, Snoeck, Irina N., de Coo, Irenaeus F.M., Brooks, Alice, Bulk, Saskia, Gooskens, Rob, Fock, Annemarie, Verschuuren-Bemelmans,

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 237 KB

english, 2013

38

Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial

Beukers, Fenny, van der Heide, Maaike, Middelburg, Karin J., Cobben, Jan Maarten, Mastenbroek, Sebastiaan, Breur, Rinske, van der Lee, Johanna H., Hadders-Algra, Mijna, Bos, Arend F., Kok, Joke H.

Journal:

Fertility and Sterility

Année:

2013

Langue:

english

Fichier:

PDF, 223 KB

english, 2013

39

Opposite effects on facial morphology due to gene dosage sensitivity

Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, T

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2014

40

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu,

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 557 KB

english, 2014

41

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S.

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 2.11 MB

english, 2015

42

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

Ockeloen, Charlotte W., Cobben, Jan M., Marcelis, Carlo L.M., Koolen, David A.

Journal:

Clinical Dysmorphology

Année:

2013

Langue:

english

Fichier:

PDF, 260 KB

english, 2013

43

Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

van Dijk, Fleur S., Nikkels, Peter G. J., den Hollander, Nicolette S., Nesbitt, Isabel M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard

Journal:

Pediatric and Developmental Pathology

Année:

2011

Langue:

english

Fichier:

PDF, 2.04 MB

english, 2011

44

Atrophoderma Vermiculatum

van Dijk, Fleur S., Brittain, Helen, Boerma, Ragna, Robert, Marie L., Cobben, Jan M.

Journal:

JAMA Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 131 KB

english, 2015

45

Diagnostic Value of Lactate Dehydrogenase Isoenzyme Pattern in Pleural Effusions

Cobben, Nicolle A. M., van Belle, Arne F., Pennings, Herman-Jan, Mulder, Paul G. H., van Dieijen-Visser, Marja P., Wouters, Emiel F. M., Drent, Marjolein

Journal:

Clinical Chemistry and Laboratory Medicine

Année:

1997

Langue:

english

Fichier:

PDF, 905 KB

english, 1997

46

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) – update 2015

Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 181 KB

english, 2015

47

Clinical utility gene card for: proximal spinal muscular atrophy

Rudnik–Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 157 KB

english, 2012

48

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV

Richards, Allan J., Narcisi, Paolo, Ferguson, Carole, Cobben, Jan M., Pope, F.Michael

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.60 MB

english, 1994

49

Complete COL1A1 allele deletions in osteogenesis imperfecta

van Dijk, Fleur S, Huizer, Margriet, Kariminejad, Ariana, Marcelis, Carlo L, Plomp, Astrid S, Terhal, Paulien A, Meijers-Heijboer, Hanne, Weiss, Marjan M, van Rijn, Rick R, Cobben, Jan M, Pals, Gerard

Journal:

Genetics in Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 660 KB

english, 2010

50

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Stray-Pedersen, Asbjørg, Cobben, Jan-Maarten, Prescott, Trine E., Lee, Sora, Cang, Chunlei, Aranda, Kimberly, Ahmed, Sohnee, Alders, Marielle, Gerstner, Thorsten, Aslaksen, Kathinka, Tétreault, Martin

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 883 KB

english, 2015