J. Albrechts

发表

Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

J. Engelen, H. Kroes, J. de Pater, 2005, Prenatal diagnosis.

Spectral Karyotypic and Comparative Genomic Analysis of the Endocrine Pancreatic Tumor Cell Line BON-1

E. Speel, B. Skogseid, S. Claessen, 2009, Neuroendocrinology.

Mosaic telomeric (2;14) association in a child with motor delay.

J. Herbergs, C. Marcelis, J. Engelen, 2000, American journal of medical genetics.

A new syndrome of microtia with unilateral renal agenesis and short stature

A. Caglayan, S. Stevens, J. Engelen, 2012, American journal of medical genetics. Part A.

Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences.

M. Stevens-Kroef, H. Schouten, J. Albrechts, 2000, Cancer genetics and cytogenetics.

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.

A. Plomp, J. Geraedts, J. Vles, 1998, American journal of medical genetics.

Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.

J. Fryns, J. Geraedts, J. Geraedts, 1996, Journal of medical genetics.

Partial trisomy and monosomy 8p due to inversion duplication

M. E. Jacobs, J. Fryns, J. Engelen, 1994, Clinical genetics.

Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.

C. D. de Die-Smulders, J. Engelen, J. Albrechts, 1999, American journal of medical genetics.

Application of micro-FISH to delineate deletions.

J. Geraedts, J. Engelen, W. Loots, 1996, Cytogenetics and cell genetics.

A simple and efficient method for microdissection and microFISH.

J. Geraedts, J. Engelen, J. Albrechts, 1998, Journal of medical genetics.

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

J. Sijstermans, J. Engelen, C. Die-Smulders, 1995, Journal of medical genetics.

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication

U. Moog, J. Engelen, C. Die-Smulders, 1994, Clinical genetics.

Duplication of chromosome region 8p23.1-->p23.3: a benign variant?

U. Moog, J. Engelen, H. Dassen, 2000, American journal of medical genetics.

Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.

J. Derks, J. Engelen, J. de Pater, 2006, European journal of medical genetics.

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

S. Stevens, E. Smeets, J. Engelen, 2010, American journal of medical genetics. Part A.

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.

C. D. de Die-Smulders, U. Moog, J. Engelen, 2000, American journal of medical genetics.

Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis

J. Arends, J. Geraedts, A. Hopman, 1994, Human Genetics.

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

J. Schrander, J. Engelen, L. Spruijt, 2004, American journal of medical genetics. Part A.

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

A. Plomp, C. D. de Die-Smulders, J. Engelen, 1998, Journal of Medical Genetics.

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

H. Smeets, J. Geraedts, J. Engelen, 1999, Genetic counseling.

Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3.

E. Speel, F. Ramaekers, A. Hopman, 1999, Genomics.

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

E. Blom, J. Herbergs, S. Stevens, 2009, American journal of medical genetics. Part A.

Characterization of a chromosome 8‐derived minute marker chromosome using microdissection and FISH in a boy with growth retardation

P. Theunissen, J. Engelen, J. Albrechts, 2003, American Journal of Medical Genetics. Part A.

Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.

C. D. de Die-Smulders, J. Engelen, J. Albrechts, 1999, Annales de Genetique.

Deletion of the long arm of chromosome 6: two new patients and literature review

T. Hoorntje, J. Schrander, J. Engelen, 1996, Clinical genetics.

Alagille syndrome in a family with duplication 20p11

U. Moog, T. Hoorntje, F. Hendrikse, 1996, Clinical dysmorphology.

Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32.

E. Speel, F. Ramaekers, A. Hopman, 1998, Genomics.

Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping.

S. Detera-Wadleigh, G. V. van Eys, J. Engelen, 1997, Genomics.