Clinical Genetics

Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009
pp. 121-122(2)
Authors: Meschino, Wendy S.; Farrell, Sandra A.; Allanson, Judith

The brachydactylies: a molecular disease family
pp. 123-136(14)
Author: Mundlos, S

Development and disease of the photoreceptor cilium
pp. 137-145(9)
Authors: Ramamurthy, V; Cayouette, M

MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction
pp. 146-148(3)
Author: Ehrnhoefer, DE

IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function
pp. 148-149(2)
Author: Ehrnhoefer, DE

SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation
pp. 149-151(3)
Author: Huang, K

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation
pp. 152-160(9)
Authors: Seong, M-W; Cho, SI; Noh, D-Y; Han, W; Kim, S-W; Park, C-M; Park, H-W; Kim, SY; Kim, JY; Park, SS

BRCA2 alteration is important in clear cell carcinoma of the ovary
pp. 161-167(7)
Authors: Goodheart, MJ; Rose, SL; Hattermann-Zogg, M; Smith, BJ; De Young, BR; Buller, RE

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
pp. 168-178(11)
Authors: Rudnik-Schöneborn, S; Berg, C; Zerres, K; Betzler, C; Grimm, T; Eggermann, T; Eggermann, K; Wirth, R; Wirth, B; Heller, R

Validation of MCADD newborn screening
pp. 179-187(9)
Authors: Maier, EM; Pongratz, J; Muntau, AC; Liebl, B; Nennstiel-Ratzel, U; Busch, U; Fingerhut, R; Olgemöller, B; Roscher, AA; Röschinger, W

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
pp. 188-194(7)
Authors: Molinari, F; Kaminska, A; Fiermonte, G; Boddaert, N; Raas-Rothschild, A; Plouin, P; Palmieri, L; Brunelle, F; Palmieri, F; Dulac, O; Munnich, A; Colleaux, L

SURF1 missense mutations promote a mild Leigh phenotype
pp. 195-204(10)
Authors: Piekutowska-Abramczuk, D; Magner, M; Popowska, E; Pronicki, M; Karczmarewicz, E; Sykut-Cegielska, J; Kmiec, T; Jurkiewicz, E; Szymanska-Debinska, T; Bielecka, L; Krajewska-Walasek, M; Vesela, K; Zeman, J; Pronicka, E

Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort
pp. 205-209(5)
Authors: Lindquist, SG; Schwartz, M; Batbayli, M; Waldemar, G; Nielsen, JE

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome
pp. 210-213(4)
Authors: Brancati, F; Bernardini, L; Cavalcanti, DP; Romano, C; Novelli, A; Dallapiccola, B

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature
pp. 214-218(5)
Authors: Chou, A; Boerkoel, C; du Souich, C; Rupps, R

A successful screening for Fabry disease in a Chinese dialysis patient population
pp. 219-221(3)
Authors: Lv, YL; Wang, WM; Pan, XX; Wang, ZH; Chen, N; Ye, ZY; Xu, J