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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

K Snape, S Hanks, E Ruark, P Barros-Núñez… - Nature …, 2011 - ncbi.nlm.nih.gov
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function
variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional
mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and ...
Cited by 2 - Related articles - All 3 versions

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

M Balasubramanian, LC Peres… - Clinical Dysmorphology, 2011 - journals.lww.com
We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe
the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier
reports of full trisomy 11, presumably because it is lethal and results in early spontaneous ...
Related articles - All 4 versions

Acknowledgment to Referees (2010)

[PDF] from informs.org…, S Ardekani, S Atkins, ATM Mosaic… - Transportation …, 2011 - transci.journal.informs.org
We wish to thank the following individuals who acted as referees for Transportation Science
in 2010. We express our apologies to those whose names we may have missed. ...
Abkowitz, Mark, Vanderbilt University Abou-Zeid, Maya, American University of Beirut ...

The Mosaic Law in Christian Perspective

[PDF] from nellco.orgD Skeel… - 2011 - papers.ssrn.com
... Research Paper No. 11-25 The Mosaic Law in Christian Perspective David Skeel UNIVERSITY
OF PENNSYLVANIA ... Page 2. Electronic copy available at: http://ssrn.com/abstract=1903928 1
The Mosaic Law in Christian Perspective David Skeel & Tremper Longman Introduction ...

Genetic mosaic analysis reveals a major role for frizzled 4 and frizzled 8 in controlling ureteric growth in the developing kidney

X Ye, Y Wang, A Rattner… - Development, 2011 - dev.biologists.org
The developing mammalian kidney is an attractive system in which to study the control of organ
growth. Targeted mutations in the Wnt receptors frizzled (Fz) 4 and Fz8 lead to reduced ureteric
bud growth and a reduction in kidney size, a phenotype previously reported for loss of ...
Cited by 1 - Related articles - All 2 versions

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