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» Authors » Jozefa C M Albrechts

Jozefa C M Albrechts

Explore the profile of Jozefa C M Albrechts including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 13
Followers 0
Related Specialties
Genetics
Neurology
Endocrinology
Top 10 Co-Authors
Servi J C Stevens
John J M Engelen
Eric E J G L Smeets
Jannie W H Janssen
Ernst-Jan M Speel
Jannie W M Janssen
Sandra M H Claessen
Chris M J van Uum
Mijke A Breukels
Melanie Lennarts
Published In
Am J Med Genet A
Neuroendocrinology
Cancer Genet Cytogenet
Affiliations
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Recent Articles
1.
A new syndrome of microtia with unilateral renal agenesis and short stature
Caglayan A, Stevens S, Albrechts J, Dundar M, Engelen J
Am J Med Genet A . 2012 Jun; 158A(8):1837-40. PMID: 22711661
We report on a 13-month-old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum),...
2.
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome
Stevens S, Smeets E, van den Broek N, Droog R, Breukels M, Albrechts J, et al.
Am J Med Genet A . 2010 Jul; 152A(8):2123-6. PMID: 20635365
No abstract available.
3.
A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL
Stevens S, Meers L, Albrechts J, Mebis-Verhees K, Bos G, Engelen J, et al.
Cancer Genet Cytogenet . 2010 Jul; 201(1):48-51. PMID: 20633769
A 55-year-old man sought care for aggressive acute lymphoblastic leukemia (ALL), which developed 8 years after he had received chemotherapeutic treatment for nephrotic syndrome. The sole cytogenetic abnormality observed in...
4.
Spectral karyotypic and comparative genomic analysis of the endocrine pancreatic tumor cell line BON-1
Lopez J, Claessen S, Macville M, Albrechts J, Skogseid B, Speel E
Neuroendocrinology . 2009 Nov; 91(2):131-41. PMID: 19887762
BON-1 is a human serotonin-producing endocrine pancreatic tumor (EPT) cell line, which has been used for various studies of tumorigenesis and treatment. Because its genotype, phenotype and degree of differentiation...
5.
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
Stevens S, Smeets E, Blom E, van Uum C, Albrechts J, Herbergs J, et al.
Am J Med Genet A . 2009 Sep; 149A(10):2226-30. PMID: 19725130
Genotypic and phenotypic data are presented on three adult siblings with mild to moderate mental retardation and mild dysmorphic features. All three siblings showed a chromosome 20 gain at the...