Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

184 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
A locus for autosomal recessive achromatopsia on human chromosome 8q.
Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT. Milunsky A, et al. Among authors: destefano a. Clin Genet. 1999 Jul;56(1):82-5. doi: 10.1034/j.1399-0004.1999.560112.x. Clin Genet. 1999. PMID: 10466422
Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual impairment, frequently leading to 'legal blindness'. ...Here, we confirm the genetic mapping of a locus discovered in our studies of …
Autosomal recessive achromatopsia is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and visual i …
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.
Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B. Baldwin CT, et al. Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637. Hum Mol Genet. 1995. PMID: 8541853
Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a genetic cause. ...Here, we describe a large Middle-Eastern Druze family with recessive non-syndromic deafness and demonstrate linkage betw …
Clinically significant hearing loss affects 1 in 1000 infants and it is estimated that at least 50% of these cases are due to a genet …
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Among authors: destefano al. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segrega …
Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than …
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.
DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P, et al. DeStefano AL, et al. Am J Hum Genet. 1996 Jul;59(1):119-27. Am J Hum Genet. 1996. PMID: 8659514 Free PMC article.
Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. ...Further studies of a much larger sample are needed to …
Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucle …
A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. Lautenschlager NT, et al. Among authors: destefano a. Genet Anal. 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. Genet Anal. 1996. PMID: 8880147
Mutations in the MITF gene on human chromosome 3 have been reported in families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominant disorder responsible for a large proportion of congenital hearing loss. ...In one four-generation family, we found a novel t …
Mutations in the MITF gene on human chromosome 3 have been reported in families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominan …
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.
Milunsky J, DeStefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A. Milunsky J, et al. Among authors: destefano al. Am J Med Genet. 1997 Oct 3;72(1):66-70. doi: 10.1002/(sici)1096-8628(19971003)72:1<66::aid-ajmg14>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9295078
Detecting linkage for a complex disease using simulated extended pedigrees.
DeStefano AL, Cupples LA, Myers RH, Farrer LA. DeStefano AL, et al. Genet Epidemiol. 1997;14(6):981-6. doi: 10.1002/(SICI)1098-2272(1997)14:6<981::AID-GEPI70>3.0.CO;2-G. Genet Epidemiol. 1997. PMID: 9433611

Two strategies for utilizing a second data set were evaluated. In a two-stage approach, only those regions with p-value < 0.005 in Replicate 1 were followed up in the second data set. ...Although the false positive rate increased when a complete genome scr

Two strategies for utilizing a second data set were evaluated. In a two-stage approach, only those regions with p-value < 0

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197
The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. ...Although a suggestive association was detected for hearing loss with an odds ratio of 2.6 for AA substitution in the paired domain comp …
The phenotype is variable and affected individuals may exhibit only one or a combination of several of the associated features. ...Al …
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
DeStefano AL, Baldwin CT, Burzstyn M, Gavras I, Handy DE, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten DH, Farrer LA, Gavras H. DeStefano AL, et al. Am J Hum Genet. 1998 Nov;63(5):1425-30. doi: 10.1086/302096. Am J Hum Genet. 1998. PMID: 9792870 Free PMC article.
A genomewide scan was conducted in the two largest families, and three regions with multipoint LOD scores >1.5 were identified. ...There was significant evidence of linkage in the presence of heterogeneity at 18q, with a maximum LOD score of 3.92 at D18S1367 in t
A genomewide scan was conducted in the two largest families, and three regions with multipoint LOD scores >1.5 were identified. ..
Evidence for linkage between essential hypertension and a putative locus on human chromosome 17.
Baima J, Nicolaou M, Schwartz F, DeStefano AL, Manolis A, Gavras I, Laffer C, Elijovich F, Farrer L, Baldwin CT, Gavras H. Baima J, et al. Among authors: destefano al. Hypertension. 1999 Jul;34(1):4-7. doi: 10.1161/01.hyp.34.1.4. Hypertension. 1999. PMID: 10406815
Several clinical and animal studies indicate that essential hypertension is inherited as a multifactorial trait with a significant genetic and environmental component. ...
Several clinical and animal studies indicate that essential hypertension is inherited as a multifactorial trait with a signifi …
184 results
Jump to page
Feedback