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Year Number of Results
1831 1
1848 1
1854 1
1856 1
1860 1
1861 1
1864 1
1867 1
1868 1
1871 1
1872 1
1874 1
1878 1
1880 1
1884 1
1887 1
1896 1
1904 1
1921 1
1929 1
1934 1
1939 1
1940 1
1944 1
1946 1
1947 1
1948 2
1949 1
1951 4
1953 4
1954 1
1955 4
1956 2
1957 3
1958 5
1959 4
1960 2
1961 5
1962 7
1963 10
1964 9
1965 8
1966 4
1967 14
1968 16
1969 12
1970 22
1971 31
1972 17
1973 27
1974 25
1975 76
1976 64
1977 74
1978 69
1979 75
1980 82
1981 96
1982 79
1983 101
1984 109
1985 120
1986 112
1987 150
1988 129
1989 136
1990 145
1991 159
1992 220
1993 225
1994 239
1995 261
1996 284
1997 276
1998 334
1999 311
2000 245
2001 239
2002 252
2003 224
2004 238
2005 216
2006 250
2007 198
2008 188
2009 183
2010 182
2011 190
2012 197
2013 172
2014 168
2015 170
2016 122
2017 143
2018 143
2019 132
2020 161
2021 149
2022 108
2023 136
2024 40

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8,198 results

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Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. Fechner PY, et al. J Clin Endocrinol Metab. 1993 May;76(5):1248-53. doi: 10.1210/jcem.76.5.8496317. J Clin Endocrinol Metab. 1993. PMID: 8496317 Review.
In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct development. We evaluated a kindred in which a partial form of 46,XY gonadal dysgenesis occurred in four subjects from two generations. …
In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct dev …
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.
Whyte MP, Essmyer K, Geimer M, Mumm S. Whyte MP, et al. J Pediatr. 2006 Jun;148(6):753-8. doi: 10.1016/j.jpeds.2006.01.031. J Pediatr. 2006. PMID: 16769381 Review.
Here, we sequenced the coding exons and splice sites of the kindred's TNSALP alleles and reviewed our 30-year experience with HPP to assess its prevalence in black people. RESULTS: Homozygosity for TNSALP missense mutation 1348C>T (Arg433Cys) accounted for this …
Here, we sequenced the coding exons and splice sites of the kindred's TNSALP alleles and reviewed our 30-year experience with …
Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families.
Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM. Marshall JD, et al. Am J Med Genet. 1997 Dec 12;73(2):150-61. doi: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1997. PMID: 9409865 Review.
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. ...The clinical data from this large Acadian kindred, together with information obtained from 4 additional AS patients in …
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical …
Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred.
Prasad S, Holla VV, Pal PK. Prasad S, et al. Tremor Other Hyperkinet Mov (N Y). 2021 Aug 4;11:32. doi: 10.5334/tohm.639. eCollection 2021. Tremor Other Hyperkinet Mov (N Y). 2021. PMID: 34430069 Free PMC article.
BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. This report describes a genetically proven SCA2 kindred with an atypical phenotype resembling SCA3. CASE REPORT: The phenotype …
BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at o …
X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.
Whyte MP, Gottesman GS, Eddy MC, McAlister WH. Whyte MP, et al. Medicine (Baltimore). 1999 Jan;78(1):9-25. doi: 10.1097/00005792-199901000-00002. Medicine (Baltimore). 1999. PMID: 9990351 Free article. Review.
We characterize the clinical and radiographic evolution of X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) in a 6-generation kindred from Arkansas (SEDT(AK)). Our observations show the natural progression of SEDT(AK) and enable carrier detection by radiographi …
We characterize the clinical and radiographic evolution of X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) in a 6-generation …
The adrenoleukodystrophies.
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE. Moser HW, et al. Crit Rev Neurobiol. 1987;3(1):29-88. Crit Rev Neurobiol. 1987. PMID: 3552451 Review.
Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a ch …
Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, …
Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.
Klein CJ, Kimmel GW, Pittock SJ, Engelstad JE, Cunningham JM, Wu Y, Dyck PJ. Klein CJ, et al. Arch Neurol. 2011 Oct;68(10):1295-302. doi: 10.1001/archneurol.2011.225. Arch Neurol. 2011. PMID: 21987543 Free PMC article.
Mutated MFN2 is responsible for Charcot-Marie-Tooth type 2A2. In small kindreds, specific MFN2 mutations have been reported to associate with severity of axonal neuropathy, optic atrophy, and involvement of the central nervous system. ...OBJECTIVE: To study a newly identif …
Mutated MFN2 is responsible for Charcot-Marie-Tooth type 2A2. In small kindreds, specific MFN2 mutations have been reported to associ …
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro. RESULTS: We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (l …
The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro. RESUL …
Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview.
Bilbao Garay I, Daly AF, Egaña Zunzunegi N, Beckers A. Bilbao Garay I, et al. J Clin Med. 2020 Jun 26;9(6):2003. doi: 10.3390/jcm9062003. J Clin Med. 2020. PMID: 32604740 Free PMC article.
Similarly, the pitfalls encountered due to incomplete penetrance of pituitary adenomas in AIP-mutated kindreds are discussed....
Similarly, the pitfalls encountered due to incomplete penetrance of pituitary adenomas in AIP-mutated kindreds are discussed....
Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.
Townley RA, Polsinelli AJ, Fields JA, Machulda MM, Jones DT, Graff-Radford J, Kantarci KM, Lowe VJ, Rademakers RV, Baker MC, Kumar N, Boeve BF. Townley RA, et al. Neurocase. 2020 Aug;26(4):211-219. doi: 10.1080/13554794.2020.1787458. Epub 2020 Jun 30. Neurocase. 2020. PMID: 32602775 Free PMC article.
METHOD: Clinical, neuropsychological, and neuroimaging characterization of a kindred. RESULTS: Three of four mutation carriers have progressed to a frontotemporal dementia phenotype. ...CONCLUSIONS AND RELEVANCE: Gene silencing treatments are on the horizon and when they b …
METHOD: Clinical, neuropsychological, and neuroimaging characterization of a kindred. RESULTS: Three of four mutation carriers have p …
8,198 results

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