Clinical Genetics

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations
pp. 1-9(9)
Authors: Eccles, Michael R; Schimmenti, Lisa A

HotSpots
pp. 10-13(4)
Author: Lewis, ME Suzanne

Molecular mechanisms controlling lung morphogenesis
pp. 14-27(14)
Authors: Perl, Anne-Karina T; Whitsett, Jeffrey A

Family physicians' perspectives on genetics and the human genome project
pp. 28-34(7)
Authors: Fetters, Michael D.; Doukas, David J.; Luan Dinh Phan, K.

Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions
pp. 35-40(6)
Authors: Price, JA; Wright, JT; Walker, SJ; Crawford, PJM; Aldred, MJ; Hart, TC

Cohen syndrome: evaluation of its cardiac, endocrine and radiological features
pp. 41-49(9)
Authors: Kivitie-Kallio, Satu; Eronen, Marianne; Lipsanen-Nyman, Marita; Marttinen, Eino; Norio, Reijo

Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation
pp. 51-58(8)
Authors: Siciliano, G; Tessa, A; Renna, M; Manca, ML; Mancuso, M; Murri, L

High frequency of tissue-specific mosaicism in Turner syndrome patients
pp. 59-65(7)
Authors: Nazarenko, Sergey A; Timoshevsky, Vladimir A; Sukhanova, Natalia N

Mucopolysaccharidosis type I: Characterization of novel mutations affecting α-l-iduronidase activity
pp. 66-70(5)
Authors: Lee-Chen, GJ; Lin, SP; Tang, YF; Chin, YW

Homozygosity for a novel DTDST mutation in a child with a `broad bone-platyspondylic' variant of diastrophic dysplasia
pp. 71-76(6)
Authors: Mégarbané, André; Haddad, Fady A.; Haddad-Zebouni, Soha; Achram, Mitri; Eich, Georg; Le Merrer, Martine; Superti-Furga, Andrea

Germline mosaicism in X-linked myotubular myopathy
pp. 77-81(5)
Authors: Häne, Bernhard G; Curtis Rogers, R; Schwartz, Charles E

A locus for autosomal recessive achromatopsia on human chromosome 8q
pp. 82-85(4)
Authors: Milunsky, Aubrey; Huang, Xin-Li; Milunsky, Jeff; DeStefano, Anita; Baldwin, Clinton T

A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly
pp. 86-92(7)
Authors: Joyce, Christine A; Cabral de Almeida, José Carlos; Santa Rose, Antonio Abílio; Correia, Patricia; Moraes, Lúcia; Bastos, Elenice; Llerena Jr, Juan

Infantile spasms in a patient with partial duplication of chromosome 2p
pp. 93-94(2)

Distal arthrogryposis type IIB: probable autosomal recessive inheritance
pp. 95-97(3)

Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain
pp. 98-99(2)

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin
pp. 100-102(3)

Triple aneuploidy in spontaneous abortions
pp. 103-104(2)