Clinical Genetics

Parent of origin effects
pp. 201-209(9)
Authors: Guilmatre, A; Sharp, AJ

Isolated and syndromic forms of congenital anosmia
pp. 210-215(6)
Authors: Karstensen, HG; Tommerup, N

Reproductive behavior of individuals with increased risk of having a child with retinoblastoma
pp. 216-223(8)
Authors: Dommering, CJ; Garvelink, MM; Moll, AC; van Dijk, J; Imhof, SM; Meijers-Heijboer, H; Henneman, L

Fabry disease: polymorphic haplotypes and a novel missense mutation in the
pp. 224-233(10)
Authors: Ferri, L; Guido, C; la Marca, G; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, R; Giglio, S; Della Valle, CM; Wu, X; Valenzano, KJ; Benjamin, ER; Donati, MA; Guerrini, R; Genuardi, M; Morrone, A

mutations causing CHARGE syndrome are predominantly of paternal origin
pp. 234-239(6)
Authors: Pauli, S; von Velsen, N; Burfeind, P; Steckel, M; Mänz, J; Buchholz, A; Borozdin, W; Kohlhase, J

X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in
pp. 240-248(9)
Authors: Demosthenous, P; Voskarides, K; Stylianou, K; Hadjigavriel, M; Arsali, M; Patsias, C; Georgaki, E; Zirogiannis, P; Stavrou, C; Daphnis, E; Pierides, A; Deltas, C; the Hellenic Nephrogenetics Research Consortiumcr13,

Identification of an
pp. 249-256(8)
Authors: Barbaro, M; Kotajärvi, M; Harper, P; Floderus, Y

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism
pp. 257-264(8)
Authors: Yu, HE; Hawash, K; Picker, J; Stoler, J; Urion, D; Wu, B-L; Shen, Y

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome
pp. 265-271(7)
Authors: Petit, F; Holder-Espinasse, M; Duban-Bedu, B; Bouquillon, S; Boute-Benejean, O; Bazin, A; Rouland, V; Manouvrier-Hanu, S; Delobel, B

Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects
pp. 272-277(6)
Authors: Loke, J; Ostrer, H

Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of
pp. 278-283(6)
Authors: Borowiec, M; Antosik, K; Fendler, W; Deja, G; Jarosz-Chobot, P; Mysliwiec, M; Zmyslowska, A; Malecki, M; Szadkowska, A; Mlynarski, W

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands
pp. 284-288(5)
Authors: Hensen, EF; van Duinen, N; Jansen, JC; Corssmit, EPM; Tops, CMJ; Romijn, JA; Vriends, AHJT; van der Mey, AGL; Cornelisse, CJ; Devilee, P; Bayley, JP

A truncating mutation in
pp. 289-293(5)
Authors: Yariz, KO; Walsh, T; Akay, H; Duman, D; Akkaynak, AC; King, M-C; Tekin, M

is mutated in an otocephalic newborn infant conceived by consanguineous parents
pp. 294-297(4)
Authors: Çelik, T; Simsek, PO; Sozen, T; Ozyuncu, O; Utine, GE; Talim, B; Yiğit, Ş; Boduroglu, K; Kamnasaran, D

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features
pp. 298-300(3)
Authors: Eggermann, T; Spengler, S; Begemann, M; Binder, G; Buiting, K; Albrecht, B; Spranger, S

Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complex
pp. 301-302(2)
Authors: Xin, Z-T; Ly, H