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1

Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome

Nicol C. Voermans, Hans Knoop, Nicole van de Kamp, Ben C. Hamel, Gijs Bleijenberg, Baziel G. van Engelen

Journal:

Seminars in Arthritis and Rheumatism

Year:

2010

Language:

english

File:

PDF, 229 KB

english, 2010

2

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Crow, Yanick J, Hayward, Bruce E, Parmar, Rekha, Robins, Peter, Leitch, Andrea, Ali, Manir, Black, Deborah N, van Bokhoven, Hans, Brunner, Han G, Hamel, Ben C

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 176 KB

english, 2006

3

Marden-Walker syndrome: case report, literature review and nosologic discussion

Constance Schrander-Stumpel, Christine de Die-Smulders, Marc de Krom, Suzanne Schyns-Fleuren, Ben Hamel, Deni Jaeken, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 1.28 MB

english, 1993

4

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Paulien Terhal, Marie-José van den Bogaard, Saskia Maas, Ben Hamel, Georgette Salieb-Beugelaar, Marleen Simon, Tom Letteboer, Jasper van der Smagt, Hester Kroes, Marcel Mannens

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 485 KB

english, 2006

5

The H2-oxidizing Rhizobacteria Associated with Field-Grown Lentil Promote the Growth of Lentil Inoculated with Hup+RhizobiumThrough Multiple Modes of Action

Abdellatif, Lobna, Ben-Mahmoud, O. Metoui, Yang, C., Hanson, K. G., Gan, Y., Hamel, Chantal

Journal:

Journal of Plant Growth Regulation

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

6

FGFs, their receptors, and human limb malformations: Clinical and molecular correlations

Andrew O.M. Wilkie, Susannah J. Patey, Shih-hsin Kan, Ans M.W. van den Ouweland, Ben C.J. Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 297 KB

english, 2002

7

Pattern of p63 mutations and their phenotypes—update

Tuula Rinne, Ben Hamel, Hans van Bokhoven, Han G. Brunner

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 215 KB

english, 2006

8

Neuromuscular involvement in various types of Ehlers–Danlos syndrome

Nicol C. Voermans, Nens van Alfen, Sigrid Pillen, Martin Lammens, Joost Schalkwijk, Machiel J. Zwarts, Iris A. van Rooij, Ben C. J. Hamel, Baziel G. van Engelen

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

9

Familial adult-onset muscular dystrophy with leukoencephalopathy

Dr Baziel G. M. van Engelen, Quint H. Leyten, Pieter L. J. A. Bernsen, Fons J. M. Gabreëls, Ed M. G. Joosten, Henk J. ter Laak, Mechelien B. M. Ruijs, Ben C. J. Hamel, Johan R. M. Cruysberg, Frederik

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 432 KB

english, 1992

10

Myoadenylate deaminase deficiency: A clinical, genetic, and biochemical study in nine families

Dr. Sietze P. T. Sinkeler, Dr. M. G. Joosten, Dr. Ron A. Wevers, Dr. T. Lian Oei, Dr. Alga E. M. Jacobs, Dr. Jacques H. Veerkamp, Dr. Ben C. J. Hamel

Journal:

Year:

1988

Language:

english

File:

PDF, 410 KB

english, 1988

11

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

de Vries, Bert B A, Pals, Gerard, Odink, Roelof, Hamel, Ben C J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 169 KB

english, 2007

12

Aplasia cutis congenita and associated disorders: an update

Mirjam E. J. W. Evers, Peter M. Steijlen, Ben C. J. Hamel

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 510 KB

english, 1995

13

Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency

Hendriks, Anke G.M., Voermans, Nicol C., Schalkwijk, Joost, Hamel, Ben C., van Rossum, Michelle M.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 158 KB

english, 2012

14

Former les agents de stérilisation par le jeu

Hamel, Claire, Daupin, Johanne, David, Brigitte, Ben Nasr, Nesrine, Moreau, Émilie, Bézie, Yvonnick

Journal:

Le Pharmacien Hospitalier et Clinicien

Year:

2016

Language:

french

File:

PDF, 302 KB

french, 2016

15

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28

Hamel, Ben C. J., Kremer, Hannie, Swaay, Eveline Wesby-van, van den Helm, Bellinda, Smits, Arie P. T., Oostra, Ben A., Ropers, Hans-Hilger, Mariman, Edwin C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

16

Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

Hamel, Ben C. J., Smits, Arie P. T., Otten, Barto J., van den Helm, Bellinda, Ropers, Hans-Hilger, Mariman, Edwin C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 646 KB

english, 1996

17

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

Year:

1998

Language:

english

File:

PDF, 251 KB

english, 1998

18

A large family with multiple epiphyseal dysplasia linked to COL9A2 gene

van Mourik, Jan B.A., Hamel, Ben C.J., Mariman, Edwin C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 198 KB

english, 1998

19

Psychometric assessment of families with X-linked mental retardation

Roosmalen, Tanja van, Smits, Arie P.T., Thoonen, Geert H.J., Hamel, Ben C.J., Assman-Hulmans, Claire F.C.H., Gabreels, Fons J.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 79 KB

english, 1999

20

Longitudinal changes in cognitive-behavioral levels in three children with FRAXE

Fisch, Gene S., Carpenter, Nancy J., Simensen, Richard, Smits, Arie P.T., van Roosmalen, Tanja, Hamel, Ben C.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

21

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Siderius, Liesbeth E., Hamel, Ben C.J., van Bokhoven, Hans, de Jager, Frank, van den Helm, Bellinda, Kremer, Hannie, Heineman-de Boer, Josien A., Ropers, Hans-Hilger, Mariman, Edwin C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 239 KB

english, 1999

22

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

des Portes, Vincent, Beldjord, Ch�rif, Chelly, Jamel, Hamel, Ben, Kremer, Hannie, Smits, Arie, van Bokhoven, Hans, Ropers, Hans-Hilger, Claes, Stephan, Fryns, Jean Pierre, Ronce, Nathalie, Gendrot, Ch

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 71 KB

english, 1999

23

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Hamel, Ben C.J., Smits, Arie P.T., van den Helm, Bellinda, Smeets, Dominique F.C.M., Knoers, Nine V.A.M., van Roosmalen, Tanja, Thoonen, Geert H.J., Assman-Hulsmans, Claire F.C.H., Ropers, Hans-Hilger

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 965 KB

english, 1999

24

Perlman syndrome: Four additional cases and review

Henneveld, Hetty Th., van Lingen, Richard A., Hamel, Ben C.J., Stolte-Dijkstra, Irene, van Essen, Antonie J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 379 KB

english, 1999

25

Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia

Wong, Wai Yee, Eskes, Tom K.A.B., Kuijpers-Jagtman, Anne-Marie, Spauwen, Paul H.M., Steegers, Eric A.P., Thomas, Chris M.G., Hamel, Ben C.J., Blom, Henk J., Steegers-Theunissen, R�gine P.M.

Journal:

Year:

1999

Language:

english

File:

PDF, 130 KB

english, 1999

26

Syndromic XLMR genes (MRXS): Update 2000

Ben C. J. Hamel, Pietro Chiurazzi, Herbert A. Lubs

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 67 KB

english, 2000

27

9th International workshop on Fragile X syndrome and X-linked mental retardation

Jean-Pierre Fryns, Martine Borghgraef, Ted W. Brown, Jamel Chelly, Gene S. Fisch, Ben Hamel, André Hanauer, Didier Lacombe, Ligun Luo, James N. MacPherson, Jean-Louis Mandel, Claude Moraine, John Mull

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 193 KB

english, 2000

28

Cosegregation of T108A Elk-1 with mental retardation

Andreas Schröer, Maurice P. Scheer, Sylvia Zacharias, Silke Schneider, Hans Hilger Ropers, Hans Gerd Nothwang, Jamel Chelly, Ben Hamel, Jean-Pierre Fryns, Peter Shaw, Claude Moraine

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

29

An intronic nucleotide variant of the RET proto-oncogene causes Hirschsprung disease by interfering with RNA splicing

Paola Griseri, Michele Mishto, Manuela Priolo, Barbara Pesce, Ben C. J. Hamel, Giovanni Romeo, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Gene Function & Disease

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

30

In-frame deletion in MECP2 causes mild nonspecific mental retardation

Helger G. Yntema, Astrid R. Oudakker, Tjitske Kleefstra, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Vera M. Kalscheuer, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Claude Moraine

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

31

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

Ernie M.H.F. Bongers, Hans van Bokhoven, Nine V.A.M. Knoers, Ben C.J. Hamel, C. Geoffrey Woods

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 76 KB

english, 2002

32

Expanding phenotype of XNP mutations: Mild to moderate mental retardation

Helger G. Yntema, Francis A. Poppelaars, Esther Derksen, Astrid R. Oudakker, Tanja van Roosmalen, Anja Jacobs, Hanneke Obbema, Han G. Brunner, Ben C.J. Hamel, Hans van Bokhoven

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 130 KB

english, 2002

33

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3–Xp21.3

Tjitske Kleefstra, Helger G. Yntema, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Ben C.J. Hamel, Francis A. Poppelaars, Margreet G.E.M. Ausems

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

34

P63 gene mutations and human developmental syndromes

Han G. Brunner, Ben C.J. Hamel, Hans van Bokhoven

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 240 KB

english, 2002

35

Melnick-Needles syndrome: Indication for an autosomal recessive form

Dr. Ben ter Haar, Ben Hamel, Jan Hendriks, Jan de Jager, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 526 KB

english, 1982

36

Acrocallosal syndrome

Han J. E. Hendriks, Han G. Brunner, Ton A. M. Haagen, Ben C. J. Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 384 KB

english, 1990

37

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

Ineke Van Der Burgt, Asgeir Haraldsson, Jan C. Oosterwijk, Anthonie J. van Essen, Corry Weemaes, Ben Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 937 KB

english, 1991

38

Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers

Arie Smits, Dominique Smeets, Jos Dreesen, Ben Hamel, Anton de Haan, Bernard van Oost

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 451 KB

english, 1992

39

High prevalence of the Fra(X) syndrome cannot be explained by a high mutation rate

Arie Smits, Dominique Smeets, Ben Hamel, Jos Dreesen, Bernard van Oost

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 506 KB

english, 1992

40

Penetrance of Fra(X) gene: Influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male

Arie P. T. Smits, Bernard A. van Oost, Anton F. J. de Haan, Ben C. J. Hamel, Jos C. F. M. Dreesen, Dominique F. C. M. Smeets

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 554 KB

english, 1992

41

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

Han G. Brunner, Theo Hulsebos, Peter M. Steijlen, Daan J. der Kinderen, A. v.d. Steen, Ben C. J. Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 305 KB

english, 1993

42

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)

Leonard O. Langer Jr., Dr. Robert J. Gorlin, Dian Donnai, Ben C. J. Hamel, Carol Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 819 KB

english, 1994

43

Prediction of mental status in carriers of the fragile X mutation using CGG repeat length

Arie Smits, Dominique Smeets, Ben Hamel, Jos Dreesen, Anton de Haan, Bernard van Oost

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 381 KB

english, 1994

44

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

Ben C. J. Hamel, Edwin C. M. Mariman, Sylvia E. C. van Beersum, Anneke M. J. Schoonbrood-Lenssen, Hans-Hilger Ropers

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 653 KB

english, 1994

45

Clinical and molecular studies in a large Dutch family with Noonan syndrome

Ineke Van Der Burgt, Ed Berends, Ed Lommen, Sylvia Van Beersum, Ben Hamel, Edwin Mariman

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 536 KB

english, 1994

46

Oculo-ectodermal syndrome: A new case

Mirjam E. J. W. Evers, Regina H. M. Dijkman-Neerincx, Ben C. J. Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 206 KB

english, 1994

47

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report

Ben C. J. Hamel, Jos M. T. Draaisma, Alfred J. L. G. Pinckers, Carla Boetes, Rainer L. E. Hoppe, Hans-Hilger Ropers, Han G. Brunner

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 516 KB

english, 1995

48

Meier-Gorlin syndrome: Report of eight additional cases and review

Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer, Pierre Sarda, Raoul C.M. Hennekam, Brian D. Hall, Duane W. Superneau, Madeline Harbison, Alexis Poss, Hans van Bokhoven, Ben C.J. Hamel, Nine V.A.M. Kn

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 477 KB

english, 2001

49

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

Suzanna G.M. Frints, Lin Jun, Jean-Pierre Fryns, Koen Devriendt, Rudi Teulingkx, Lut Van den Berghe, Bernice De Vos, Martine Borghgraef, Jamel Chelly, Vincent Des Portes, Hans Van Bokhoven, Ben Hamel,

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

50

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33

Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, Ben Hamel, Jamel Chelly, Helger G. Yntema, Hans van Bokhoven, Meropi Tzoufi, Ioannis Georgiou, Philippos C. Patsalis

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

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