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1

Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents

Van Maldergem, Lionel, Bachy, Alain, Feldman, David, Bouillon, Roger, Maassen, Johannes, Dreyer, Manfred, Rey, Rodolfo, Holm, Cecilia, Gillerot, Yves

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.00 MB

english, 1996

2

Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

Rivka L. Glaser, Wen Jiang, Simeon A. Boyadjiev, Alissa K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinead Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wan

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 234 KB

english, 2000

3

Early infantile cardiomyopathy and liver disease: A multisystemic disorder caused by congenital lipodystrophy

Debray, François-Guillaume, Baguette, Christel, Colinet, Stéphanie, Van Maldergem, Lionel, Verellen-Dumouin, Christine

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 464 KB

english, 2013

4

Genome-Wide Scan for Autism Susceptibility Genes

Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A., Leboyer, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 120 KB

english, 1999

5

Autism spectrum disorder associated with low serotonin in CSF and mutations in theSLC29A4plasma membrane monoamine transporter (PMAT) gene

Adamsen, Dea, Ramaekers, Vincent, Ho, Horace TB, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Wali

Journal:

Molecular Autism

Year:

2014

Language:

english

File:

PDF, 929 KB

english, 2014

6

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

Breckpot, Jeroen, Vercruyssen, Marieke, Weyts, Eddy, Vandevoort, Sean, D'Haenens, Greet, Van Buggenhout, Griet, Leempoels, Lore, Brischoux-Boucher, Elise, Van Maldergem, Lionel, Renieri, Alessandra, M

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.01 MB

english, 2016

7

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine, Jonard, Laurence, Loundon, Natalie, Christin-Maitre, Sophie, Lacombe, Didier, Goizet, Cyril, Rouzier, Cécile, Van Maldergem, Lionel, Gherbi, Souad, Garabedian, Eréa-Nöel, Bonnefont, Je

Journal:

Year:

2016

Language:

english

File:

PDF, 643 KB

english, 2016

8

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

Ader, F., De Groote, P., Reant, P., Dupin Deguine, D., Rambaud, C., Khraiche, D., Pruny, J.F., Dramard, M.M., Troadec, Y., Gouya, L., Jeunemaitre, X., Van Maldergem, L., Villard, E., Charron, P., Rich

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2020

Language:

english

File:

PDF, 314 KB

english, 2020

9

Prenatal ultrasound detection of congenital cataract in trisomy 21

Muriel Romain, Joëlle Awoust, Christian Dugauquier, Lionel Van Maldergem

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

10

Association of cleft palate with Sprengel anomaly: Confirmation of the Hodgson-Chiu syndrome

A. Monier, L. Van Maldergem, R. Stevens

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000

11

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

Alessandra Splendore, Maria Rita Passos-Bueno, Ethylin Wang Jabs, Lionel Van Maldergem, Eric A. Wulfsberg

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

12

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Wim Wuyts, Dominique Roland, Hermann-Josef Lüdecke, Jan Wauters, Martine Foulon, Wim Van Hul, Lionel Van Maldergem

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 235 KB

english, 2002

13

Severe congenital cutis laxa with pulmonary emphysema: A family with three affected sibs

L. Van Maldergem, E. Vamos, I. Liebaers, P. Petit, G. Vandevelde, A. Simonis-Blumenfrucht, R. Bouffioux, S. Kulakowski, S. Hanquinet, P. Van Durme, M. Laporte, M. Ledoux-Corbusier, James F. Reynolds,

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 698 KB

english, 1988

14

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia

Dr. L. Van Maldergem, G. Ogǔr, M. Yüksel, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 79 KB

english, 1989

15

Response to Dr. Majewski

L. Van Maldergem

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 54 KB

english, 1989

16

Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: A new case of Hunter-fraser syndrome

L. Van Maldergem, Y. Gillerot, N. Perlmutter, C. Wetzburger, L. Koulischer

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 295 KB

english, 1990

17

Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)

Dr. Alain Verloes, Yves Gillerot, Elisabeth Walczak, Lionel Van Maldergem, Lucien Koulischer

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 388 KB

english, 1992

18

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types

Dr. Alain Verloes, Hubert Journel, Catherine Elmer, Jean-Paul Misson, Martine Le Merrer, Josseline Kaplan, Lionel Van Maldergem, H. Deconinck, Françoise Meire

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 641 KB

english, 1993

19

Oral-facial-digital syndrome type I in a newborn male

Yves Gillerot, Marianne Heimann, Catherine Fourneau, Christine Verellen-Dumoulin, Lionel Van Maldergem

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 383 KB

english, 1993

20

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Adeline Jacquinet, Marion Gérard, Michael T. Gabbett, Léon Rausin, Jean-Paul Misson, Björn Menten, Geert Mortier, Lionel Van Maldergem, Alain Verloes, François-Guillaume Debray

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

21

Coenzyme Q– responsive Leigh's encephalopathy in two sisters

Lionel Van Maldergem, Frans Trijbels, Salvatore DiMauro, Pavel J. Sindelar, Olimpia Musumeci, Antoon Janssen, Xavier Delberghe, Jean-Jacques Martin, Yves Gillerot

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002

22

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Katja Grohmann, Raymonda Varon, Piroschka Stolz, Markus Schuelke, Catrin Janetzki, Enrico Bertini, Kate Bushby, Francesco Muntoni, Robert Ouvrier, Lionel Van Maldergem, Nathalie M. L. A. Goemans, Hann

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 213 KB

english, 2003

23

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Craig L. Bennett, Andrew J. Shirk, Huy M. Huynh, Valerie A. Street, Eva Nelis, Lionel Van Maldergem, Peter De Jonghe, Albena Jordanova, Velina Guergueltcheva, Ivailo Tournev, Peter Van den Bergh, Pave

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 985 KB

english, 2004

24

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinas

Journal:

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

25

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha, Ethylin Wang

Journal:

Year:

2009

Language:

english

File:

PDF, 248 KB

english, 2009

26

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Brian P Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens, Andy Willaert, Nursel Elcioglu, Lionel Van Maldergem, Christine Verellen-Dumoulin, Yves Gillerot, Dobrawa

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 235 KB

english, 2011

27

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

MA Shaw, N Brunetti-Pierri, L Kádasi, V Kovácová, L Van Maldergem, D De Brasi, M Salerno, J Gécz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 733 KB

english, 2003

28

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Mustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, Ibrahim A Alorainy, Lu Liu, John A McGrath, Lionel Van Maldergem, Yasser H Al-Fakey, Adel H AlSuhaibani, Darren T Oystreck, Thomas M Bosley

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 625 KB

english, 2011

29

Morphological features of a case of retinoic acid embryopathy

Lionel van Maldergem, Eric Jauniaux, Yves Gillerot

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 218 KB

english, 1992

30

Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors

E. R. van der Vorm, A. Kuipers, J. W. Bonenkamp, W. J. Kleijer, L. Van Maldergem, J. Herwig, J. A. Maassen

Journal:

Year:

1993

Language:

english

File:

PDF, 350 KB

english, 1993

31

Peroxisomal localization of the immunoreactiveβ-oxidation enzymes in a neonate with aβ-oxidation defect

M. Espeel, F. Roels, L. Van Maldergem, D. De Craemer, G. Dacremont, R. J. A. Wanders, T. Hashimoto

Journal:

Virchows Archiv

Year:

1991

Language:

english

File:

PDF, 3.05 MB

english, 1991

32

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

J. Jaeken, M. Detheux, L. Van Maldergem, J. P. Frijns, P. Alliet, M. Foulon, H. Carchon, E. Van Schaftingen

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 303 KB

english, 1996

33

The Marshall-smith syndrome

A. Charon, Y. Gillerot, L. Van Maldergem, M. H. Van Schaftingen, B. de Bont, L. Koulischer

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 519 KB

english, 1990

34

Lethal short-rib with median cleft and without polydactyly: A fourth case

L. van Maldergem, Y. Gillerot, E. Salmin, A. Verloes, L. Koulischer

Journal:

Pediatric Radiology

Year:

1990

Language:

english

File:

PDF, 495 KB

english, 1990

35

Increased prostacyclin biosynthesis in a patient with homocystinuria

L. Van Maldergem, P. Capel, J. -M. Boeynaems

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 225 KB

english, 1990

36

Thiamine pyrophosphate: An essential cofactor for the α-oxidation in mammals – implications for thiamine deficiencies?

M. Sniekers, V. Foulon, G. P. Mannaerts, L. Van Maldergem, H. Mandel, B. D. Gelb, M. Casteels, P. P. Van Veldhoven

Journal:

Cellular and Molecular Life Sciences

Year:

2006

Language:

english

File:

PDF, 549 KB

english, 2006

37

SOX10mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

Véronique Pingault, Mathilde Girard, Nadège Bondurand, Huw Dorkins, Lionel Van Maldergem, David Mowat, Takashi Shimotake, Ishwar Verma, Clarisse Baumann, Michel Goossens

Journal:

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

38

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type

L. Van Maldergem, A. B. Moser, M.-F. Vincent, D. Roland, R. Reding, J.-B. Otte, R. J. Wanders, E. Sokal

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

39

Congenital generalized lipodystrophy in an Indian patient with a novel mutation inBSCL2gene

H. U. Shirwalkar, Z. M. Patel, J. Magre, P. Hilbert, L. Van Maldergem, R. R. Mukhopadhyay, A. Maitra

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 365 KB

english, 2008

40

Adverse cutaneous drug reactions in AIDS

L. DE RAEVE, M. SONG, L. VAN MALDERGEM

Journal:

British Journal of Dermatology

Year:

1988

Language:

english

File:

PDF, 168 KB

english, 1988

41

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

FH Menko, CMF Kneepkens, N De Leeuw, EAJ Peeters, L Van Maldergem, EJ Kamsteeg, R Davidson, L Rozendaal, CA Lasham, CMP Peeters-Scholte, MC Jansweijer, Y Hilhorst-Hofstee, JJP Gille, YM Heins, AWM Nie

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 580 KB

english, 2008

42

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

S Saal, L Faivre, Bernard Aral, N Gigot, A Toutain, L Van Maldergem, A Destree, I Maystadt, J-P Cosyns, P-S Jouk, B Loeys, D Chauveau, E Bieth, V Layet, M Mathieu, J Lespinasse, A Teebi, B Franco, E G

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 585 KB

english, 2010

43

10.1038/5102

Munroe, Patricia B., Olgunturk, Rana O., Fryns, Jean-Pierre, Maldergem, Lionel Van, Ziereisen, France, Yuksel, Bulend, Gardiner, R. Mark, Chung, Eddie

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 219 KB

english, 1999

44

10.1038/81563

Van Hul, Wim, Janssens, Katrien, Gershoni-Baruch, Ruth, Guañabens, Nuria, Migone, Nicola, Ralston, Stuart, Bonduelle, Maryse, Lissens, Willy, Van Maldergem, Lionel, Vanhoenacker, Filip, Verbruggen, Le

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 293 KB

english, 2000

45

10.1038/ng585

Magré, Jocelyne, Delépine, Marc, Khallouf, Eliane, Gedde-Dahl, Tobias, Van Maldergem, Lionel, Sobel, Eric, Papp, Jeanette, Meier, Muriel, Mégarbané, André, Lathrop, Mark, Capeau, Jacqueline

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 553 KB

english, 2001

46

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

Verloes, Alain, Gillerot, Yves, Van Maldergem, Lionel, Schoos, Roland, Herens, Christian, Jamar, Mauricette, Dideberg, Vinciane, Lesenfants, Sylviane, Koulischer, Lucien

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

47

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

Muscatelli, Françoise, Gillessen-Kaesbach, Gabriele, Runte, Maren, Färber, Claudia, Lich, Christina, Zeschnigk, Michael, Buchholz, Tina, Smith, Arabella, Van Maldergem, Lionel, Bürger, Joachim

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

48

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken, B. T. Poll-The

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

49

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Eckart, M., Guenther, U.-P., Idkowiak, J., Varon, R., Grolle, B., Boffi, P., Van Maldergem, L., Hubner, C., Schuelke, M., von Au, K.

Journal:

Year:

2011

Language:

english

File:

PDF, 1.40 MB

english, 2011

50

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

Van Maldergem, L., Tuerlinckx, D., Wanders, R. J., Vianey-Saban, C., Van Hoof, F., Martin, J. -J., Fourneau, C., Gillerot, Y., Bachy, A.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 301 KB

english, 2000