Lethal femoral-facial syndrome: a case with unusual manifestations.

Por Gillerot, Y, Fourneau, C, Willems, T, Van Maldergem, L
Publicado em 1997

The Baller-Gerold syndrome.

Por Van Maldergem, L, Verloes, A, Lejeune, L, Gillerot, Y
Publicado em 1992

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Por Gillerot, Y, Van Maldergem, L, Chef, R, Koulischer, L
Publicado em 1991

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

Por Verloes, A, Van Maldergem, L, de Marneffe, P, Dufier, J L, Maroteaux, P
Publicado em 1990

Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly

Por Andries, S, Sartenaer, D, Rack, K, Rombout, S, Tuerlinckx, D, Gillerot, Y, Van Maldergem, L
Publicado em 2002

Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

Por Malloy, P J, Eccleshall, T R, Gross, C, Van Maldergem, L, Bouillon, R, Feldman, D
Publicado em 1997

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Por Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E
Publicado em 1996

Brachymorphism-onychodysplasia-dysphalangism syndrome.

Por Verloes, A, Bonneau, D, Guidi, O, Berthier, M, Oriot, D, Van Maldergem, L, Koulischer, L
Publicado em 1993

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Por Le Merrer, M, Ben Othmane, K, Stanescu, V, Lyonnet, S, Van Maldergem, L, Royer, G, Munnich, A, Maroteaux, P
Publicado em 1992

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Por Cantagrel, V, Lossi, A, Boulanger, S, Depetris, D, Mattei, M, Gecz, J, Schwartz, C, Van Maldergem, L, Villard, L
Publicado em 2004

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

Por Hardcastle, A J, Thiselton, D L, Van Maldergem, L, Saha, B K, Jay, M, Plant, C, Taylor, R, Bird, A C, Bhattacharya, S
Publicado em 1999

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: a...

Por Bonaventure, J, Cohen-Solal, L, Ritvaniemi, P, Van Maldergem, L, Kadhom, N, Delezoide, A L, Maroteaux, P, Prockop, D J, Ala-Kokko, L
Publicado em 1995

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

Por Janssens, K., Gershoni-Baruch, R., Van Hul, E., Brik, R., Guanabens, N., Migone, N., Verbruggen, L., Ralston, S., Bonduelle, M., Van Maldergem, L., Vanhoenacker, F., Van Hul, W.
Publicado em 2000

Camurati‐Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Por Janssens, K, Vanhoenacker, F, Bonduelle, M, Verbruggen, L, Van Maldergem, L, Ralston, S, Guañabens, N, Migone, N, Wientroub, S, Divizia, M T, Bergmann, C, Bennett, C, Simsek, S, Melançon, S, Cundy, T, Van Hul, W
Publicado em 2006

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

Por Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Publicado em 2006

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

Por FRANSEN, E., VERSTREKEN, M., BOM, S., LEMAIRE, F., KEMPERMAN, M., DE KOK, Y. J M, WUYTS, F., VERHAGEN, W., HUYGEN, P., MCGUIRT, W., SMITH, R., VAN MALDERGEM, L., DECLAU, F., CREMERS, C., VAN DE HEYNING, P. H, CREMERS, F., VAN CAMP, G.
Publicado em 2001

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Por Thauvin‐Robinet, C, Cossée, M, Cormier‐Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R
Publicado em 2006

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

Por Bamshad, M, Le, T, Watkins, W S, Dixon, M E, Kramer, B E, Roeder, A D, Carey, J C, Root, S, Schinzel, A, Van Maldergem, L, Gardner, R J, Lin, R C, Seidman, C E, Seidman, J G, Wallerstein, R, Moran, E, Sutphen, R, Campbell, C E, Jorde, L B
Publicado em 1999

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Por Van Maldergem, L, Magre, J, Khallouf, T, Gedde-Dahl, T, Delepine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C, Bonnici, F, Panz, V, Medina, J, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Megarbane, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C, Silveira, E, D'Abronzo, F, Grigorescu, F, Lathrop, M, Capeau, J, O'Rahilly, S
Publicado em 2002

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Por Buiting, K, Dittrich, B, Gross, S, Lich, C, Färber, C, Buchholz, T, Smith, E, Reis, A, Bürger, J, Nöthen, M M, Barth-Witte, U, Janssen, B, Abeliovich, D, Lerer, I, van den Ouweland, A M, Halley, D J, Schrander-Stumpel, C, Smeets, H, Meinecke, P, Malcolm, S, Gardner, A, Lalande, M, Nicholls, R D, Friend, K, Schulze, A, Matthijs, G, Kokkonen, H, Hilbert, P, Van Maldergem, L, Glover, G, Carbonell, P, Willems, P, Gillessen-Kaesbach, G, Horsthemke, B
Publicado em 1998