Results
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1101.
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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. [electronic resource] by
- Billuart, P
- Bienvenu, T
- Ronce, N
- des Portes, V
- Vinet, M C
- Zemni, R
- Roest Crollius, H
- Carrié, A
- Fauchereau, F
- Cherry, M
- Briault, S
- Hamel, B
- Fryns, J P
- Beldjord, C
- Kahn, A
- Moraine, C
- Chelly, J
Producer: 19980518
In:
Nature vol. 392
Availability: No items available.
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1102.
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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. [electronic resource] by
- Bienvenu, T
- des Portes, V
- Saint Martin, A
- McDonell, N
- Billuart, P
- Carrié, A
- Vinet, M C
- Couvert, P
- Toniolo, D
- Ropers, H H
- Moraine, C
- van Bokhoven, H
- Fryns, J P
- Kahn, A
- Beldjord, C
- Chelly, J
Producer: 19980909
In:
Human molecular genetics vol. 7
Availability: No items available.
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1103.
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GATA3 haplo-insufficiency causes human HDR syndrome. [electronic resource] by
- Van Esch, H
- Groenen, P
- Nesbit, M A
- Schuffenhauer, S
- Lichtner, P
- Vanderlinden, G
- Harding, B
- Beetz, R
- Bilous, R W
- Holdaway, I
- Shaw, N J
- Fryns, J P
- Van de Ven, W
- Thakker, R V
- Devriendt, K
Producer: 20000817
In:
Nature vol. 406
Availability: No items available.
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1104.
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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. [electronic resource] by
- Nelen, M R
- van Staveren, W C
- Peeters, E A
- Hassel, M B
- Gorlin, R J
- Hamm, H
- Lindboe, C F
- Fryns, J P
- Sijmons, R H
- Woods, D G
- Mariman, E C
- Padberg, G W
- Kremer, H
Producer: 19971030
In:
Human molecular genetics vol. 6
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1105.
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A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. [electronic resource] by
- Yntema, H G
- van den Helm, B
- Kissing, J
- van Duijnhoven, G
- Poppelaars, F
- Chelly, J
- Moraine, C
- Fryns, J P
- Hamel, B C
- Heilbronner, H
- Pander, H J
- Brunner, H G
- Ropers, H H
- Cremers, F P
- van Bokhoven, H
Producer: 20000302
In:
Genomics vol. 62
Availability: No items available.
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1106.
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MECP2 is highly mutated in X-linked mental retardation. [electronic resource] by
- Couvert, P
- Bienvenu, T
- Aquaviva, C
- Poirier, K
- Moraine, C
- Gendrot, C
- Verloes, A
- Andrès, C
- Le Fevre, A C
- Souville, I
- Steffann, J
- des Portes, V
- Ropers, H H
- Yntema, H G
- Fryns, J P
- Briault, S
- Chelly, J
- Cherif, B
Producer: 20010802
In:
Human molecular genetics vol. 10
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1107.
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. [electronic resource] by
- Laumonnier, F
- Holbert, S
- Ronce, N
- Faravelli, F
- Lenzner, S
- Schwartz, C E
- Lespinasse, J
- Van Esch, H
- Lacombe, D
- Goizet, C
- Phan-Dinh Tuy, F
- van Bokhoven, H
- Fryns, J-P
- Chelly, J
- Ropers, H-H
- Moraine, C
- Hamel, B C J
- Briault, S
Producer: 20060724
In:
Journal of medical genetics vol. 42
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1108.
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. [electronic resource] by
- Menten, B
- Maas, N
- Thienpont, B
- Buysse, K
- Vandesompele, J
- Melotte, C
- de Ravel, T
- Van Vooren, S
- Balikova, I
- Backx, L
- Janssens, S
- De Paepe, A
- De Moor, B
- Moreau, Y
- Marynen, P
- Fryns, J-P
- Mortier, G
- Devriendt, K
- Speleman, F
- Vermeesch, J R
Producer: 20061227
In:
Journal of medical genetics vol. 43
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1109.
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. [electronic resource] by
- Kleefstra, T
- Yntema, H G
- Oudakker, A R
- Banning, M J G
- Kalscheuer, V M
- Chelly, J
- Moraine, C
- Ropers, H-H
- Fryns, J-P
- Janssen, I M
- Sistermans, E A
- Nillesen, W N
- de Vries, L B A
- Hamel, B C J
- van Bokhoven, H
Producer: 20040716
In:
Journal of medical genetics vol. 41
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1110.
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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. [electronic resource] by
- Kleefstra, T
- Smidt, M
- Banning, M J G
- Oudakker, A R
- Van Esch, H
- de Brouwer, A P M
- Nillesen, W
- Sistermans, E A
- Hamel, B C J
- de Bruijn, D
- Fryns, J-P
- Yntema, H G
- Brunner, H G
- de Vries, B B A
- van Bokhoven, H
Producer: 20060803
In:
Journal of medical genetics vol. 42
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1111.
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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. [electronic resource] by
- Hannes, F D
- Sharp, A J
- Mefford, H C
- de Ravel, T
- Ruivenkamp, C A
- Breuning, M H
- Fryns, J-P
- Devriendt, K
- Van Buggenhout, G
- Vogels, A
- Stewart, H
- Hennekam, R C
- Cooper, G M
- Regan, R
- Knight, S J L
- Eichler, E E
- Vermeesch, J R
Producer: 20090528
In:
Journal of medical genetics vol. 46
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1112.
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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. [electronic resource] by
- Carrié, A
- Jun, L
- Bienvenu, T
- Vinet, M C
- McDonell, N
- Couvert, P
- Zemni, R
- Cardona, A
- Van Buggenhout, G
- Frints, S
- Hamel, B
- Moraine, C
- Ropers, H H
- Strom, T
- Howell, G R
- Whittaker, A
- Ross, M T
- Kahn, A
- Fryns, J P
- Beldjord, C
- Marynen, P
- Chelly, J
Producer: 19990923
In:
Nature genetics vol. 23
Availability: No items available.
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1113.
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. [electronic resource] by
- Lugtenberg, D
- de Brouwer, A P M
- Kleefstra, T
- Oudakker, A R
- Frints, S G M
- Schrander-Stumpel, C T R M
- Fryns, J P
- Jensen, L R
- Chelly, J
- Moraine, C
- Turner, G
- Veltman, J A
- Hamel, B C J
- de Vries, B B A
- van Bokhoven, H
- Yntema, H G
Producer: 20060616
In:
Journal of medical genetics vol. 43
Availability: No items available.
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1114.
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. [electronic resource] by
- Zemni, R
- Bienvenu, T
- Vinet, M C
- Sefiani, A
- Carrié, A
- Billuart, P
- McDonell, N
- Couvert, P
- Francis, F
- Chafey, P
- Fauchereau, F
- Friocourt, G
- des Portes, V
- Cardona, A
- Frints, S
- Meindl, A
- Brandau, O
- Ronce, N
- Moraine, C
- van Bokhoven, H
- Ropers, H H
- Sudbrak, R
- Kahn, A
- Fryns, J P
- Beldjord, C
- Chelly, J
Producer: 20000228
In:
Nature genetics vol. 24
Availability: No items available.
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1115.
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9th international workshop on fragile X syndrome and X-linked mental retardation. [electronic resource] by
- Fryns, J P
- Borghgraef, M
- Brown, T W
- Chelly, J
- Fisch, G S
- Hamel, B
- Hanauer, A
- Lacombe, D
- Luo, L
- MacPherson, J N
- Mandel, J L
- Moraine, C
- Mulley, J
- Nelson, D
- Oostra, B
- Partington, M
- Ramakers, G J
- Ropers, H H
- Rousseau, F
- Schwartz, C
- Steinbach, P
- Stoll, C
- Tranebjaerg, L
- Turner, G
- Van Bokhoven, H
- Vianna-Morgante, A
Producer: 20001107
In:
American journal of medical genetics vol. 94
Availability: No items available.
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1116.
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. [electronic resource] by
- Beysen, D
- Raes, J
- Leroy, B P
- Lucassen, A
- Yates, J R W
- Clayton-Smith, J
- Ilyina, H
- Brooks, S Sklower
- Christin-Maitre, S
- Fellous, M
- Fryns, J P
- Kim, J R
- Lapunzina, P
- Lemyre, E
- Meire, F
- Messiaen, L M
- Oley, C
- Splitt, M
- Thomson, J
- Van de Peer, Y
- Veitia, R A
- De Paepe, A
- De Baere, E
Producer: 20050923
In:
American journal of human genetics vol. 77
Availability: No items available.
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1117.
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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. [electronic resource] by
- van Bokhoven, H
- Hamel, B C
- Bamshad, M
- Sangiorgi, E
- Gurrieri, F
- Duijf, P H
- Vanmolkot, K R
- van Beusekom, E
- van Beersum, S E
- Celli, J
- Merkx, G F
- Tenconi, R
- Fryns, J P
- Verloes, A
- Newbury-Ecob, R A
- Raas-Rotschild, A
- Majewski, F
- Beemer, F A
- Janecke, A
- Chitayat, D
- Crisponi, G
- Kayserili, H
- Yates, J R
- Neri, G
- Brunner, H G
Producer: 20010906
In:
American journal of human genetics vol. 69
Availability: No items available.
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1118.
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). [electronic resource] by
- Hagleitner, M M
- Lankester, A
- Maraschio, P
- Hultén, M
- Fryns, J P
- Schuetz, C
- Gimelli, G
- Davies, E G
- Gennery, A
- Belohradsky, B H
- de Groot, R
- Gerritsen, E J A
- Mattina, T
- Howard, P J
- Fasth, A
- Reisli, I
- Furthner, D
- Slatter, M A
- Cant, A J
- Cazzola, G
- van Dijken, P J
- van Deuren, M
- de Greef, J C
- van der Maarel, S M
- Weemaes, C M R
Producer: 20080312
In:
Journal of medical genetics vol. 45
Availability: No items available.
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1119.
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. [electronic resource] by
- van Bon, B W M
- Mefford, H C
- Menten, B
- Koolen, D A
- Sharp, A J
- Nillesen, W M
- Innis, J W
- de Ravel, T J L
- Mercer, C L
- Fichera, M
- Stewart, H
- Connell, L E
- Ounap, K
- Lachlan, K
- Castle, B
- Van der Aa, N
- van Ravenswaaij, C
- Nobrega, M A
- Serra-Juhé, C
- Simonic, I
- de Leeuw, N
- Pfundt, R
- Bongers, E M
- Baker, C
- Finnemore, P
- Huang, S
- Maloney, V K
- Crolla, J A
- van Kalmthout, M
- Elia, M
- Vandeweyer, G
- Fryns, J P
- Janssens, S
- Foulds, N
- Reitano, S
- Smith, K
- Parkel, S
- Loeys, B
- Woods, C G
- Oostra, A
- Speleman, F
- Pereira, A C
- Kurg, A
- Willatt, L
- Knight, S J L
- Vermeesch, J R
- Romano, C
- Barber, J C
- Mortier, G
- Pérez-Jurado, L A
- Kooy, F
- Brunner, H G
- Eichler, E E
- Kleefstra, T
- de Vries, B B A
Producer: 20091102
In:
Journal of medical genetics vol. 46
Availability: No items available.
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1120.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. [electronic resource] by
- Hu, H
- Haas, S A
- Chelly, J
- Van Esch, H
- Raynaud, M
- de Brouwer, A P M
- Weinert, S
- Froyen, G
- Frints, S G M
- Laumonnier, F
- Zemojtel, T
- Love, M I
- Richard, H
- Emde, A-K
- Bienek, M
- Jensen, C
- Hambrock, M
- Fischer, U
- Langnick, C
- Feldkamp, M
- Wissink-Lindhout, W
- Lebrun, N
- Castelnau, L
- Rucci, J
- Montjean, R
- Dorseuil, O
- Billuart, P
- Stuhlmann, T
- Shaw, M
- Corbett, M A
- Gardner, A
- Willis-Owen, S
- Tan, C
- Friend, K L
- Belet, S
- van Roozendaal, K E P
- Jimenez-Pocquet, M
- Moizard, M-P
- Ronce, N
- Sun, R
- O'Keeffe, S
- Chenna, R
- van Bömmel, A
- Göke, J
- Hackett, A
- Field, M
- Christie, L
- Boyle, J
- Haan, E
- Nelson, J
- Turner, G
- Baynam, G
- Gillessen-Kaesbach, G
- Müller, U
- Steinberger, D
- Budny, B
- Badura-Stronka, M
- Latos-Bieleńska, A
- Ousager, L B
- Wieacker, P
- Rodríguez Criado, G
- Bondeson, M-L
- Annerén, G
- Dufke, A
- Cohen, M
- Van Maldergem, L
- Vincent-Delorme, C
- Echenne, B
- Simon-Bouy, B
- Kleefstra, T
- Willemsen, M
- Fryns, J-P
- Devriendt, K
- Ullmann, R
- Vingron, M
- Wrogemann, K
- Wienker, T F
- Tzschach, A
- van Bokhoven, H
- Gecz, J
- Jentsch, T J
- Chen, W
- Ropers, H-H
- Kalscheuer, V M
Producer: 20160916
In:
Molecular psychiatry vol. 21
Availability: No items available.
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