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J C M Albrechts

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Ahmet Okay Caglayan; Munis Dundar; J C M Albrechts; Servi J C Stevens; John Engelen
A new syndrome of microtia with unilateral renal agenesis and short stature.
Servi J C Stevens; Eric E J G L Smeets; Naomi van den Broek; Richard P Droog; Mijke A Breukels; J C M Albrechts; Marion Rauh-van Delst; Erik Traa; Melanie Lennarts; Jannie W H Janssen; J J M Engelen
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.
Servi J C Stevens; Eric E J G L Smeets; Eveline Blom; Chris M J van Uum; J C M Albrechts; Jos Herbergs; Jannie W M Janssen; J J M Engelen
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.

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All Publications

2012: Ahmet Okay Caglayan; Munis Dundar; J C M Albrechts; Servi J C Stevens; John Engelen
A new syndrome of microtia with unilateral renal agenesis and short stature.
American journal of medical genetics. Part A 2012;158A(8):1837-40.
2010: Servi J C Stevens; Eric E J G L Smeets; Naomi van den Broek; Richard P Droog; Mijke A Breukels; J C M Albrechts; Marion Rauh-van Delst; Erik Traa; Melanie Lennarts; Jannie W H Janssen; J J M Engelen
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.
American journal of medical genetics. Part A 2010;152A(8):2123-6.
2009: Servi J C Stevens; Eric E J G L Smeets; Eveline Blom; Chris M J van Uum; J C M Albrechts; Jos Herbergs; Jannie W M Janssen; J J M Engelen
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.
American journal of medical genetics. Part A 2009;149A(10):2226-30.
2006: Joke de Pater; C J M van der Sijs-Bos; Mieke Prins; Jan B Derks; J C M Albrechts; J J M Engelen
Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH.
European journal of medical genetics 2006;49(4):306-12.
2005: Joke de Pater; Hester Y Kroes; M Verschuren; A C C van Oppen; J C M Albrechts; J J M Engelen
Mosaic trisomy (8)(p22 --> pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences.
Prenatal diagnosis 2005;25(2):151-5.
2004: L Spruijt; J J M Engelen; I P Bruinen-Smeijsters; J C M Albrechts; Jaap J P Schrander; C T R M Schrander-Stumpel
A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.
American journal of medical genetics. Part A 2004;129A(3):312-5.
2004: L Spruijt; JP Fryns; J Hanekom; J J M Engelen; M G P Alofs; J C M Albrechts; C T R M Schrander-Stumpel
A patient with a de novo 11q24.2-->qter deletion.
Genetic counseling (Geneva, Switzerland) 2004;15(1):1-7.
2003: J J M Engelen; C T R M Schrander-Stumpel; P M V M Theunissen; G Vaes-Peeters; J C M Albrechts; A J H Hamers
Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.
American journal of medical genetics. Part A 2003;118A(3):274-8.
2000: Ute Moog; J J M Engelen; J C M Albrechts; LG Baars; C E M de Die-Smulders
Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.
American journal of medical genetics 2000;94(4):306-10.
2000: J J M Engelen; Carlo L M Marcelis; Jos Herbergs; J Weber; M G P Alofs; J C M Albrechts; A J H Hamers
Mosaic telomeric (2;14) association in a child with motor delay.
American journal of medical genetics 2000;92(5):318-21.
2000: J J M Engelen; Ute Moog; Johannes Evers; H H N M Dassen; J C M Albrechts; A J H Hamers
Duplication of chromosome region 8p23.1-->p23.3: a benign variant?
American journal of medical genetics 2000;91(1):18-21.
2000: M J Stevens-Kroef; R Dirckx; LE Meers; J C M Albrechts; Harry C Schouten; A J H Hamers
Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences.
Cancer genetics and cytogenetics 2000;116(2):119-23.
2000: J J M Engelen; J H Tuerlings; J C M Albrechts; C T R M Schrander-Stumpel; A J H Hamers; C E M de Die-Smulders
Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.
Genetic counseling (Geneva, Switzerland) 2000;11(1):13-7.
1999: C E M de Die-Smulders; J J M Engelen; J C M Albrechts; GJ Hamers
Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.
American journal of medical genetics 1999;86(4):385-8.
1999: Peter F.M. van der Ven; Ernst J M Speel; J C M Albrechts; Frans C S Ramaekers; Anton H N Hopman; Dieter O Fürst
Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3.
Genomics 1999;55(2):253-5.
1999: J J M Engelen; C E M de Die-Smulders; P T Vos; LE Meers; J C M Albrechts; A J H Hamers
Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
Annales de génétique 1999;42(2):101-4.
1999: J J M Engelen; WJ Loots; J C M Albrechts; C T R M Schrander-Stumpel; R Dirckx; H J M Smeets; A J H Hamers; Joep P M Geraedts
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Genetic counseling (Geneva, Switzerland) 1999;10(2):123-32.
1998: Ernst J M Speel; Peter F.M. van der Ven; J C M Albrechts; Frans C S Ramaekers; Dieter O Fürst; Anton H N Hopman
Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32.
Genomics 1998;54(1):184-6.
1998: Astrid S Plomp; J J M Engelen; J C M Albrechts; C E M de Die-Smulders; A J H Hamers
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
Journal of medical genetics 1998;35(7):604-8.
1998: J J M Engelen; J C M Albrechts; GJ Hamers; Joep P M Geraedts
A simple and efficient method for microdissection and microFISH.
Journal of medical genetics 1998;35(4):265-8.
1998: J J M Engelen; WJ Loots; J C M Albrechts; Astrid S Plomp; S B van der Meer; J S Vles; GJ Hamers; Joep P M Geraedts
Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
American journal of medical genetics 1998;75(4):409-13.
1997: J J M Engelen; LE Esterling; J C M Albrechts; Sevilla D Detera-Wadleigh; Guillaume J J M van Eys
Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping.
Genomics 1997;43(2):245-7.
1996: Ute Moog; J J M Engelen; J C M Albrechts; T Hoorntje; fred hendrikse; C T R M Schrander-Stumpel
Alagille syndrome in a family with duplication 20p11.
Clinical dysmorphology 1996;5(4):279-88.
1996: L J Evers; C T R M Schrander-Stumpel; J J M Engelen; T M Hoorntje; C F Pulles-Heintzberger; Jaap J P Schrander; J C M Albrechts; J Peters; J P Fryns
Deletion of the long arm of chromosome 6: two new patients and literature review.
Clinical genetics 1996;50(3):138-44.
1996: J J M Engelen; W J Loots; J C M Albrechts; P C Motoh; J P Fryns; A J H Hamers; Joep P M Geraedts
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
Journal of medical genetics 1996;33(7):562-6.
1996: J J M Engelen; J C M Albrechts; W J Loots; B H Hollanders-Crombach; A J H Hamers; Joep P M Geraedts
Application of micro-FISH to delineate deletions.
Cytogenetics and cell genetics 1996;75(2-3):167-71.
1995: J J M Engelen; C E M de Die-Smulders; J M Sijstermans; L E Meers; J C M Albrechts; A J H Hamers
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.
Journal of medical genetics 1995;32(10):792-5.
1994: Ute Moog; J J M Engelen; C E M de Die-Smulders; J C M Albrechts; W H Loneus; A A Haagen; E J Raven; A J H Hamers
Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
Clinical genetics 1994;46(6):423-9.
1994: G van Lijnschoten; J C M Albrechts; M Vallinga; Anton H N Hopman; Jan-Willem Arends; Joep P M Geraedts
Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis.
Human genetics 1994;94(5):518-22.
1994: J J M Engelen; C E M de Die-Smulders; J P Fryns; Jan M N Hoovers; J C M Albrechts; W J Loots; M E Jacobs; A J H Hamers
Partial trisomy and monosomy 8p due to inversion duplication.
Clinical genetics 1994;45(4):203-7.