Springer Science and Business Media LLC

Công bố khoa học tiêu biểu

* Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp:  
A transcribed polymorphism and sub-localisation of MDM2
Springer Science and Business Media LLC - Tập 93 Số 5 - 1994
Jim Heighway, Erika L D Mitchell, David J. Jones, Gavin R M White, Mauro F. Santibfifiez Koref
Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome
Springer Science and Business Media LLC - Tập 97 - Trang 802-807 - 1996
Sheryl A. Goodart, Merlin G. Butler, Joan Overhauser
Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inver... hiện toàn bộ
The USH1C 216G?A splice-site mutation results in a 35-base-pair deletion
Springer Science and Business Media LLC - - 2005
Jennifer J Lentz, Sevtap Savas, San-San Ng, Grace Athas, Prescott L. Deininger, Bronya J.B. Keats
PKU locus: Genetic linkage with human amylase (Amy) loci and assignment to linkage group I
Springer Science and Business Media LLC - Tập 43 Số 2 - Trang 205-210 - 1978
J Kamarýt, A Mrskos, O Podhradská, V Kolcová, B Cabalska, N Duczyńska, Jadwiga Borzymowska
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
Springer Science and Business Media LLC - Tập 109 - Trang 356-365 - 2001
Leena Pulkkinen, Aoi Nakano, Franziska Ringpfeil, Jouni Uitto
Pseudoxanthoma elasticum (PXE), a heritable disorder affecting the skin, eyes, and the cardiovascular system, has recently been linked to mutations in the ABCC6 gene on chromosome 16p13.1. The original mutation detection strategy employed by us consisted of the amplification of each exon of the ABCC6 gene with primer pairs placed on the flanking introns, followed by heteroduplex scanning and direc... hiện toàn bộ
Fortuitous detection of a sporadic carrier of Duchenne's muscular dystrophy
Springer Science and Business Media LLC - Tập 6 - Trang 34-39 - 1968
James W. Hanson, Hans Zellweger, Adel K. Afifi, William F. McCormick
A case is presented of a 19-year-old white female, detected while we were investigating the range of serum creatine kinase levels in “normal” controls. She presented elevated serum creatine kinase, myopathic electromyogram, and electron microscopic evidence of dystrophic changes in muscle tissue, but no clinically detectable muscular weakness. The significance of these findings is discussed. We fe... hiện toàn bộ
Common 5′ β-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism
Springer Science and Business Media LLC - Tập 113 - Trang 123-139 - 2003
Matthew T. Webster, John B. Clegg, Rosalind M. Harding
Blocks of linkage disequilibrium (LD) in the human genome represent segments of ancestral chromosomes. To investigate the relationship between LD and genealogy, we analysed diversity associated with restriction fragment length polymorphism (RFLP) haplotypes of the 5′ β-globin gene complex. Genealogical analyses were based on sequence alleles that spanned a 12.2-kb interval, covering 3.1 kb around ... hiện toàn bộ
Isoenzymes and population genetics of sorbit dehydrogenase (EC: 1.1.1.14) in swine (sus scrofa)
Springer Science and Business Media LLC - Tập 7 - Trang 258-259 - 1969
J. Op't Hof
A method is described for detecting the enzyme sorbit dehydrogenase (SDH) after starchgel electrophoresis. Activity of this enzyme occurs predominantly in liver, kidney, thyroid and testis. It was found that this enzyme exists in multiple molecular forms. Three electrophoretic phenotypes were observed apparently representing two different homozygotes and the corresponding heterozygote. These findi... hiện toàn bộ
Adenosine deaminase polymorphism (EC: 3.5.4.4): Formal genetics and linkage relations
Springer Science and Business Media LLC - - 1969
G. Tariwerdian, H. Ritter
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
Springer Science and Business Media LLC - Tập 110 - Trang 139-144 - 2002
D. Mackay, A.-M. Coupe, J. Shield, J. Storr, I. Temple, D. Robinson
Transient neonatal diabetes mellitus (TNDM) is a rare disease believed to result from overexpression of a paternally expressed gene controlled by a differentially methylated CpG island on chromosome 6q24. Two genes partially overlap the island: the cell-cycle-control gene ZAC and the untranslated gene HYMAI, the function of which is currently unknown. Proof that either gene is involved in TNDM wou... hiện toàn bộ
Tổng số: 8,144   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 10