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International Birth Defects Information Systems
Fragile X Bibliography

International Birth Defects Information Systems


Fragile X Bibliography

10 "Oldest" Classic References

3583. Johnston,AW; Ferguson-Smith,MA; Handmaker,SD; Jones,HW; Jones,GS (1961): The Triple-X Syndrome: Clinical, Pathological, and Chromsomal Studies in Three Mentally Retarded Cases. Br. Med. J. (21 October), 1046-1052.

13911. Finby,N; Archibald,RM (1963): Skeletal abnormalities associated with gonadal dysgenesis. Am. J. Roentgenology 89, 1222-1235.

3383. Bishun,NP; Rashad,MN; Morton,WRM; Mannion,PL; Neely,MR; Burke,G (1964): Chromosomal Mosaicism in a Case of Repeated Abortion. Lancet (25 April), 936.

4489. Nielsen,J; Fischer,M (1965): Sex-chromatin and sex-chromosome abnormalities in male hypogonadal mental patients. Br. J. Psychiatry 3, 641-647.

13234. Cohen,MM; Shaw,MW (1965): Two XY siblings with gonadal dysgenesis and a female karyotype. N. Engl. J. Med. 272, 1083.

7335. Chaves-Carballo,E; Hayles,AB (1966): Ullrich-Turner syndrome in the male: Review of the literature and report of a case with lymphocytic (Hashimoto's) thyroiditis. Mayo Clin. Proc. 41, 843-854.

11917. Alexander,D; Money,J (1966): Turner's syndrome and Gerstmann's syndrome: Neuropsychologic comparisons. Neuropsychol. 4(3), 265-273.

11923. Alexander,D; Ehrhardt,AA; Money,J (1966): Defective figure drawing, geometric and human, in Turner's syndrome. J. Nerv. Ment. Dis. 142(2), 161-167.

51107. Fialkow,PJ (1966): Autoimmunity and chromosomal aberrations. Am. J. Hum. Genet. 18(1), 93-108.

72058. Teplitz,RL; Beutler,E (1966): Mosiacism, chimerism and sex-chromosome inactivation. Blood 27(2/February), 1-8.



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22008. Puck,JM; Huntington,FW (1998): X Inactivation in females with X-linked disease. N. Engl. J. Med. 338(5), 325-328.

15946. Magee,AC; Nevin,NC; Armstrong,MJ; McGibbon,D; Nevin,J (1998): Ullrich-turner syndrome: seven pregnancies in an apparent 45,X woman. Am. J. Med. Genet. 75, 1-3.

15935. Costa,T; Lambert,M; Teshima,I; Ray,PN; Richer,C-L; Dallaire,L (1998): Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex. Am. J. Med. Genet. 75, 40-44.

21761. Patsalis,PC; Hadjimarcou,MI; Velissariou,SV; Kitsiou-Tzeli,CZ; Syrrou,M; Lyberatou,E; Tsezou,AGA; Skordis,N (1997): Supernumerary Marker Chromosomes (SMCs) in Turner Syndrome are Mostly Derived from the Y Chromosome. Clin. Genet. 51, 184-190.

16072. de Vries,BBA; van den Ouweland,AMW; Mohkamsing,S; Duivenvoorden,HJ; Mol, E; Gelsema,K; van Rijn,M; Halley,RJJ; Sandkuijl,LA; Oostra,BA; Tibben,A; Niermeijer,MF (1997): Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am. J. Hum. Genet. 61, 660-667.

12486. Kenneson,A; Cramer,DW; Warren,ST (1997): Fragile X Premutations are not a major cause of early menopause. Am. J. Hum. Genet. 61, 1362-1369.

12065. Hoogeveen,AT; Oostra,BA (1997): The fragile X syndrome. J. Inherited Metab. Dis. 20, 139-151.

11998. Hagerman,RJ (1997): Fragile X Syndrome Molecular and Clinical Insights and Treatment Issues. West. J. Med. 166, 129-137.

11654. Barnicoat,A (1997): Screening for the fragile X syndrome: a model for genetic disorders? Br. Med. J. 315, 1174-1175.

10090. Arvio,M; Peippo,M; Simola,KOJ (1997): Applicability of a checklist for clinical screening of the fragile X syndrome. Clin. Genet. 52, 211-215.

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