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A Winterpacht

Explore the profile of A Winterpacht including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 57
Citations 1127
Followers 0
Related Specialties
Genetics
Molecular Biology
Pediatrics
Top 10 Co-Authors
B Zabel
J Spranger
S D Dreyer
S Mundlos
B U Zabel
B Lee
D Prawitt
K Hilbert
S Wirth
U Schwarze
Published In
Genomics
J Med Genet
Nat Genet
Am J Med Genet
Cytogenet Cell Genet
Affiliations
Soon will be listed here.
Recent Articles
1.
Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing
Lukassen S, Bosch E, Ekici A, Winterpacht A
Sci Rep . 2018 Apr; 8(1):6521. PMID: 29695820
Spermatogenesis in the mouse has been extensively studied for decades. Previous methods, such as histological staining or bulk transcriptome analysis, either lacked resolution at the single-cell level or were focused...
2.
Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta
Tagariello A, Breuer C, Birkner Y, Schmidt S, Koch A, Cesnjevar R, et al.
Curr Mol Med . 2012 Jan; 12(2):199-205. PMID: 22280357
In patients with congenital heart defects, chromosomal anomalies are 100 times more frequent than in control subjects. Coarctation of the aorta can be detected in 15-20% of patients with Ullrich-Turner...
3.
Primary erythromelalgia in a 12-year-old boy: positive response to sodium channel blockers despite negative SCN9A mutations
Jakob A, Creutzfeldt R, Staszewski O, Winterpacht A, Berner R, Hufnagel M
Klin Padiatr . 2011 Dec; 224(5):309-12. PMID: 22170168
Erythromelalgia is a rare disorder characterized by recurrent pain attacks, swelling and redness in the distal extremities. The primary forms of the disorder are caused by mutations in voltage-gated sodium...
4.
MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis
Pullig O, Tagariello A, Schweizer A, Swoboda B, Schaller P, Winterpacht A
Ann Rheum Dis . 2007 Jan; 66(2):279-80. PMID: 17242023
No abstract available.
5.
Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
Tagariello A, Heller R, Greven A, Kalscheuer V, Molter T, Rauch A, et al.
J Med Genet . 2005 Nov; 43(6):534-40. PMID: 16258006
Craniosynostosis is a congenital developmental disorder involving premature fusion of cranial sutures, which results in an abnormal shape of the skull. Significant progress in understanding the molecular basis of this...
6.
Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome
Heller R, Rauch A, Luttgen S, Schroder B, Winterpacht A
J Med Genet . 2003 Aug; 40(8):e99. PMID: 12920091
No abstract available.
7.
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints
Kocks A, Endele S, Heller R, Schroder B, Schafer H, Stadtler C, et al.
J Med Genet . 2002 May; 39(5):E23. PMID: 12011164
No abstract available.
8.
Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7
Amid C, Bahr A, Mujica A, Sampson N, Bikar S, Winterpacht A, et al.
Cytogenet Cell Genet . 2001 Aug; 93(3-4):284-90. PMID: 11528127
Comparative genomics is a superior way to identify phylogenetically conserved features like genes or regions involved in gene regulation. The comparison of extended orthologous chromosomal regions should also reveal other...
9.
Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1)
Cichutek A, Brueckmann T, Seipel B, Hauser H, Schlaubitz S, Prawitt D, et al.
Cytogenet Cell Genet . 2001 Aug; 93(3-4):277-83. PMID: 11528126
Human chromosome 11p15.3 is associated with chromosome aberrations in the Beckwith Wiedemann Syndrome and implicated in the pathogenesis of different tumor types including lung cancer and leukemias. To date, only...
10.
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
Morello R, Zhou G, Dreyer S, Harvey S, Ninomiya Y, Thorner P, et al.
Nat Genet . 2001 Feb; 27(2):205-8. PMID: 11175791
Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of different combinations of six alpha-chains (1-6), is a major matrix component of all BMs...