Results
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1081.
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Rett syndrome in females with CTS hot spot deletions: a disorder profile. [electronic resource] by
- Smeets, E
- Terhal, P
- Casaer, P
- Peters, A
- Midro, A
- Schollen, E
- van Roozendaal, K
- Moog, U
- Matthijs, G
- Herbergs, J
- Smeets, H
- Curfs, L
- Schrander-Stumpel, C
- Fryns, J P
Producer: 20050418
In:
American journal of medical genetics. Part A vol. 132A
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1082.
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Personality profiles of children and adolescents with neurofibromatosis type 1. [electronic resource] by
- Prinzie, P
- Descheemaeker, M J
- Vogels, A
- Cleymans, T
- Haselager, G J T
- Curfs, L M G
- Hellinckx, W
- Onghena, P
- Legius, E
- van Lieshout, C F M
- Fryns, J-P
Producer: 20031023
In:
American journal of medical genetics. Part A vol. 118A
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1083.
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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. [electronic resource] by
- Vylet'al, P
- Kublová, M
- Kalbácová, M
- Hodanová, K
- Baresová, V
- Stibůrková, B
- Sikora, J
- Hůlková, H
- Zivný, J
- Majewski, J
- Simmonds, A
- Fryns, J-P
- Venkat-Raman, G
- Elleder, M
- Kmoch, S
Producer: 20061017
In:
Kidney international vol. 70
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1084.
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1085.
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Mental status and fragile X expression in relation to FMR-1 gene mutation. [electronic resource] by
- de Vries, B B
- Wiegers, A M
- de Graaff, E
- Verkerk, A J
- Van Hemel, J O
- Halley, D J
- Fryns, J P
- Curfs, L M
- Niermeijer, M F
- Oostra, B A
Producer: 19940929
In:
European journal of human genetics : EJHG vol. 1
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1086.
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Recombination hotspot in NF1 microdeletion patients. [electronic resource] by
- López-Correa, C
- Dorschner, M
- Brems, H
- Lázaro, C
- Clementi, M
- Upadhyaya, M
- Dooijes, D
- Moog, U
- Kehrer-Sawatzki, H
- Rutkowski, J L
- Fryns, J P
- Marynen, P
- Stephens, K
- Legius, E
Producer: 20010830
In:
Human molecular genetics vol. 10
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1087.
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Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. [electronic resource] by
- de Die-Smulders, C E
- Engelen, J J
- Schrander-Stumpel, C T
- Govaerts, L C
- de Vries, B
- Vles, J S
- Wagemans, A
- Schijns-Fleuren, S
- Gillessen-Kaesbach, G
- Fryns, J P
Producer: 19960419
In:
American journal of medical genetics vol. 59
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1088.
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Mosaic tetrasomy 8p in two patients: clinical data and review of the literature. [electronic resource] by
- Schrander-Stumpel, C T
- Govaerts, L C
- Engelen, J J
- van der Blij-Philipsen, M
- Borghgraef, M
- Loots, W J
- Peters, J J
- Rijnvos, W P
- Smeets, D F
- Fryns, J P
Producer: 19940712
In:
American journal of medical genetics vol. 50
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1089.
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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. [electronic resource] by
- Devriendt, K
- Kim, A S
- Mathijs, G
- Frints, S G
- Schwartz, M
- Van Den Oord, J J
- Verhoef, G E
- Boogaerts, M A
- Fryns, J P
- You, D
- Rosen, M K
- Vandenberghe, P
Producer: 20010412
In:
Nature genetics vol. 27
Availability: No items available.
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1090.
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Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. [electronic resource] by
- Nelen, M R
- Kremer, H
- Konings, I B
- Schoute, F
- van Essen, A J
- Koch, R
- Woods, C G
- Fryns, J P
- Hamel, B
- Hoefsloot, L H
- Peeters, E A
- Padberg, G W
Producer: 19990628
In:
European journal of human genetics : EJHG vol. 7
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1091.
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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium. [electronic resource] by
- des Portes, V
- Beldjord, C
- Chelly, J
- Hamel, B
- Kremer, H
- Smits, A
- van Bokhoven, H
- Ropers, H H
- Claes, S
- Fryns, J P
- Ronce, N
- Gendrot, C
- Toutain, A
- Raynaud, M
- Moraine, C
Producer: 20000517
In:
American journal of medical genetics vol. 85
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1092.
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Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). [electronic resource] by
- Maas, N M C
- Van Buggenhout, G
- Hannes, F
- Thienpont, B
- Sanlaville, D
- Kok, K
- Midro, A
- Andrieux, J
- Anderlid, B-M
- Schoumans, J
- Hordijk, R
- Devriendt, K
- Fryns, J-P
- Vermeesch, J R
Producer: 20080312
In:
Journal of medical genetics vol. 45
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1093.
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Seventh International Workshop on the Fragile X and X-linked Mental Retardation. [electronic resource] by
- Tranebjaerg, L
- Lubs, H A
- Borghgraef, M
- Brown, W T
- Fisch, G
- Fryns, J P
- Hagerman, R
- Jacobs, P A
- Mandel, J L
- Mulley, J
- Oostra, B
- Schwartz, C
- Sherman, S
- Willard, H
- Willems, P
Producer: 19961120
In:
American journal of medical genetics vol. 64
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1094.
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Mental status of females with an FMR1 gene full mutation. [electronic resource] by
- de Vries, B B
- Wiegers, A M
- Smits, A P
- Mohkamsing, S
- Duivenvoorden, H J
- Fryns, J P
- Curfs, L M
- Halley, D J
- Oostra, B A
- van den Ouweland, A M
- Niermeijer, M F
Producer: 19960725
In:
American journal of human genetics vol. 58
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1095.
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. [electronic resource] by
- Laumonnier, F
- Shoubridge, C
- Antar, C
- Nguyen, L S
- Van Esch, H
- Kleefstra, T
- Briault, S
- Fryns, J P
- Hamel, B
- Chelly, J
- Ropers, H H
- Ronce, N
- Blesson, S
- Moraine, C
- Gécz, J
- Raynaud, M
Producer: 20101018
In:
Molecular psychiatry vol. 15
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1096.
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Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. [electronic resource] by
- Kantarci, S
- Casavant, D
- Prada, C
- Russell, M
- Byrne, J
- Haug, L Wilkins
- Jennings, R
- Manning, S
- Boyd, T K
- Fryns, J P
- Holmes, L B
- Donahoe, P K
- Lee, C
- Kimonis, V
- Pober, B R
Producer: 20060307
In:
American journal of medical genetics. Part A vol. 140
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1097.
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Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. [electronic resource] by
- Kutsche, K
- Yntema, H
- Brandt, A
- Jantke, I
- Nothwang, H G
- Orth, U
- Boavida, M G
- David, D
- Chelly, J
- Fryns, J P
- Moraine, C
- Ropers, H H
- Hamel, B C
- van Bokhoven, H
- Gal, A
Producer: 20001108
In:
Nature genetics vol. 26
Availability: No items available.
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1098.
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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. [electronic resource] by
- Bienvenu, T
- des Portes, V
- McDonell, N
- Carrié, A
- Zemni, R
- Couvert, P
- Ropers, H H
- Moraine, C
- van Bokhoven, H
- Fryns, J P
- Allen, K
- Walsh, C A
- Boué, J
- Kahn, A
- Chelly, J
- Beldjord, C
Producer: 20010524
In:
American journal of medical genetics vol. 93
Availability: No items available.
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1099.
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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. [electronic resource] by
- Goodman, F R
- Bacchelli, C
- Brady, A F
- Brueton, L A
- Fryns, J P
- Mortlock, D P
- Innis, J W
- Holmes, L B
- Donnenfeld, A E
- Feingold, M
- Beemer, F A
- Hennekam, R C
- Scambler, P J
Producer: 20000807
In:
American journal of human genetics vol. 67
Availability: No items available.
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1100.
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The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. [electronic resource] by
- Maas, N M C
- Van Vooren, S
- Hannes, F
- Van Buggenhout, G
- Mysliwiec, M
- Moreau, Y
- Fagan, K
- Midro, A
- Engiz, O
- Balci, S
- Parker, M J
- Sznajer, Y
- Devriendt, K
- Fryns, J P
- Vermeesch, J R
Producer: 20080402
In:
Genetic counseling (Geneva, Switzerland) vol. 18
Availability: No items available.
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