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Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
de la Chapelle A, Sankila EM, Lindlöf M, Aula P, Norio R. de la Chapelle A, et al. Clin Genet. 1985 Oct;28(4):317-20. doi: 10.1111/j.1399-0004.1985.tb00405.x. Clin Genet. 1985. PMID: 2998655
We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a
We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X c …
Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.
Pyatt RE, Nakagawa H, Hampel H, Sedra M, Fuchik MB, Comeras I, de la Chapelle A, Prior TW. Pyatt RE, et al. Among authors: de la chapelle a. Clin Genet. 2003 Mar;63(3):215-8. doi: 10.1034/j.1399-0004.2003.00040.x. Clin Genet. 2003. PMID: 12694232
By Southern blot analysis, using a cDNA probe spanning the first seven exons of MSH2, an alteration in each of three different enzyme digests (including a unique 13-kb band on HindIII digests) was observed, which suggested the presence of a large alteration i …
By Southern blot analysis, using a cDNA probe spanning the first seven exons of MSH2, an alteration in each of three different enzyme …
The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms.
Page DC, de la Chapelle A. Page DC, et al. Among authors: de la chapelle a. Am J Hum Genet. 1984 May;36(3):565-75. Am J Hum Genet. 1984. PMID: 6328977 Free PMC article.
The XX males are shown to have inherited a paternal and a maternal RFLP allele in each of the five (of seven) families in which these X-linked markers are informative. In the other two families, a maternal X-chromosomal contribution is demonstrated, but a
The XX males are shown to have inherited a paternal and a maternal RFLP allele in each of the five (of seven) families in whic …
A deletion map of the human Y chromosome based on DNA hybridization.
Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, Botstein D, de la Chapelle A, Weissenbach J. Vergnaud G, et al. Among authors: de la chapelle a. Am J Hum Genet. 1986 Feb;38(2):109-24. Am J Hum Genet. 1986. PMID: 3004206 Free PMC article.
The results are consistent with each of these individuals carrying a single contiguous portion of the Y chromosome; that is, the results suggest a deletion map of the Y chromosome, in which each of the 23 Y-specific restriction fragments tested can be assigned to on …
The results are consistent with each of these individuals carrying a single contiguous portion of the Y chromosome; that is, the resu …
Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.
Ingle C, Williamson R, de la Chapelle A, Herva RR, Haapala K, Bates G, Willard HF, Pearson P, Davies KE. Ingle C, et al. Among authors: de la chapelle a. Am J Hum Genet. 1985 May;37(3):451-62. Am J Hum Genet. 1985. PMID: 2988331 Free PMC article.
A somatic cell hybrid has been constructed and characterized using fibroblasts from a phenotypically normal woman who possesses an X chromosome with an interstitial deletion of the short arm. ...Southern blot hybridization to previously mapped DNA sequences confirms
A somatic cell hybrid has been constructed and characterized using fibroblasts from a phenotypically normal woman who possesse
Pallister-Killian syndrome: cytogenetic and molecular studies.
Peltomäki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A. Peltomäki P, et al. Among authors: de la chapelle a. Clin Genet. 1987 Jun;31(6):399-405. doi: 10.1111/j.1399-0004.1987.tb02832.x. Clin Genet. 1987. PMID: 2887316
Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. ...A new feature …
Pallister-Killian syndrome is a dysmorphic syndrome characterized by a tissue-limited mosaicism: a majority of fibrobla …
X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.
Alitalo T, Kärnä J, Forsius H, de la Chapelle A. Alitalo T, et al. Among authors: de la chapelle a. Clin Genet. 1987 Sep;32(3):192-5. doi: 10.1111/j.1399-0004.1987.tb03353.x. Clin Genet. 1987. PMID: 2887320
A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. ...
A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymor
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
Sankila EM, de la Chapelle A, Kärnä J, Forsius H, Frants R, Eriksson A. Sankila EM, et al. Among authors: de la chapelle a. Clin Genet. 1987 May;31(5):315-22. doi: 10.1111/j.1399-0004.1987.tb02815.x. Clin Genet. 1987. PMID: 2886237
While formal genealogical proof is lacking, all presently living (more than 80 affected males and 120 carrier females) probably originate from a common founder couple born in 1644 and 1646, twelve generations ago. ...The above haplotype is a very useful diagnostic t …
While formal genealogical proof is lacking, all presently living (more than 80 affected males and 120 carrier females) probably originate fr …
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.
Lindlöf M, Kääriäinen H, Davies KE, de la Chapelle A. Lindlöf M, et al. Among authors: de la chapelle a. J Med Genet. 1986 Dec;23(6):560-72. doi: 10.1136/jmg.23.6.560. J Med Genet. 1986. PMID: 2879928 Free PMC article.
In one sporadic DMD family and one BMD family with three affected males the probands showed a deletion involving the three pERT87 subclones used. ...
In one sporadic DMD family and one BMD family with three affected males the probands showed a deletion involving the three pERT87 sub …
The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.
Keskiaho L, Knuutila S, Pihko H, Nuutila A, Kaski U, Koivikko M, de la Chapelle A. Keskiaho L, et al. Among authors: de la chapelle a. J Med Genet. 1987 Nov;24(11):678-83. doi: 10.1136/jmg.24.11.678. J Med Genet. 1987. PMID: 3430542 Free PMC article.
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