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J J M Engelen

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Servi J C Stevens; Anthonie J van Essen; Conny van Ravenswaaij-Arts; Jeroen van Rheenen; Regina Heuts-Vijgen; Jannie W H Janssen; Jolien S Klein Wassink-Ruiter; Eric E J Smeets; Alexander P A Stegmann; Trijnie Dijkhuizen; J J M Engelen
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
J M A Verhagen; Yvonne J Vos; J W Weber; Christine Willekes; Jaap Bakker; C E M de Die-Smulders; J J M Engelen; A W D Gavilanes; I P C Krapels; Merryn V E Macville; C T R M Schrander-Stumpel; Alexander P A Stegmann; F H M van Lint; Suzanna G M Frints
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Aimée D C Paulussen; C T R M Schrander-Stumpel; Demis C J Tserpelis; Matteus K M Spee; Alexander P A Stegmann; Grazia M Mancini; Alice S Brooks; Margriet Collée; anneke maat-kievit; Marleen E H Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Anthonie J van Essen; Klaske D Lichtenbelt; Arie van Haeringen; Mei L Kwee; Augusta M A Lachmeijer; Gita M B Tan-Sindhunata; Merel C Van Maarle; Yvonne H J M Arens; Eric E J Smeets; C E M de Die-Smulders; J J M Engelen; H J M Smeets; Jos Herbergs
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

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All Publications

2011: Servi J C Stevens; Anthonie J van Essen; Conny van Ravenswaaij-Arts; Jeroen van Rheenen; Regina Heuts-Vijgen; Jannie W H Janssen; Jolien S Klein Wassink-Ruiter; Eric E J Smeets; Alexander P A Stegmann; Trijnie Dijkhuizen; J J M Engelen
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
American journal of medical genetics. Part A 2011;155A(11):2739-45.
2011: J M A Verhagen; Yvonne J Vos; J W Weber; Christine Willekes; Jaap Bakker; C E M de Die-Smulders; J J M Engelen; A W D Gavilanes; I P C Krapels; Merryn V E Macville; C T R M Schrander-Stumpel; Alexander P A Stegmann; F H M van Lint; Suzanna G M Frints
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
European journal of medical genetics 2011;54(6):e542-7.
2010: Aimée D C Paulussen; C T R M Schrander-Stumpel; Demis C J Tserpelis; Matteus K M Spee; Alexander P A Stegmann; Grazia M Mancini; Alice S Brooks; Margriet Collée; anneke maat-kievit; Marleen E H Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Anthonie J van Essen; Klaske D Lichtenbelt; Arie van Haeringen; Mei L Kwee; Augusta M A Lachmeijer; Gita M B Tan-Sindhunata; Merel C Van Maarle; Yvonne H J M Arens; Eric E J Smeets; C E M de Die-Smulders; J J M Engelen; H J M Smeets; Jos Herbergs
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
European journal of human genetics : EJHG 2010;18(9):999-1005.
2010: Margje Sinnema; Kees E P van Roozendaal; Marian A Maaskant; H J M Smeets; J J M Engelen; Nieke Jonker-Houben; C T R M Schrander-Stumpel; Leopold M G Curfs
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly.
European journal of human genetics : EJHG 2010;18(9):993-8.
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.
2010: Servi J C Stevens; Laurence E C Meers; Jozefa C M Albrechts; Karien Mebis-Verhees; Gerard M J Bos; J J M Engelen; Jannie W H Janssen
A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL.
Cancer genetics and cytogenetics 2010;201(1):48-51.
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.
2009: Ron Hochstenbach; Ellen van Binsbergen; J J M Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
European journal of medical genetics 2009;52(4):161-9.
2009: G Poelmans; J J M Engelen; J Van Lent-Albrechts; H J M Smeets; E Schoenmakers; B Franke; J K Buitelaar; M Wuisman-Frerker; W Erens; J Steyaert; C Schrander-Stumpel
Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(1):140-7.
2008: Maurice A M van Steensel; M Vreeburg; J J M Engelen; S Ghesquiere; A P A Stegmann; Jos Herbergs; J van Lent; B Smeets; J H Vles
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
American journal of medical genetics. Part A 2008;146A(22):2944-9.
2008: A P A Stegmann; L M H Jonker; J J M Engelen
Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
European journal of medical genetics 2008;51(2):93-105.
2006: Merryn V E Macville; Wim H Loneus; Dominique Marcus-Soekarman; Erik H L P G Huys; Eric F P M Schoenmakers; April Schrank-Hacker; Beverly S Emanuel; J J M Engelen
XX male with sex reversal and a de novo 11;22 translocation.
American journal of medical genetics. Part A 2006;140(18):1973-7.
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.
2006: L J M Evers; M P Vermaak; J J M Engelen; Leopold M G Curfs
The velocardiofacial syndrome in older age: dementia and autistic features.
Genetic counseling (Geneva, Switzerland) 2006;17(3):333-40.
2006: Joke de Pater; Martin Poot; Frits A Beemer; J B Bijlsma; W W M Hack; WM van Dam; Marc J Eleveld; Wim H Loneus; J J M Engelen
Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
European journal of medical genetics 2006;49(1):19-27.
2005: Ute Moog; Y H J M Arens; J C M van Lent-Albrechts; P E A Huijts; Eric E J Smeets; C T R M Schrander-Stumpel; J J M Engelen
Subtelomeric chromosome aberrations: still a lot to learn.
Clinical genetics 2005;68(5):397-407.
2005: Joke de Pater; Peter Nikkels; Martin Poot; Marc J Eleveld; Robert H Stigter; C J M van der Sijs-Bos; Wim H Loneus; J J M Engelen
Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2005;8(4):497-503.
2005: Dominique Marcus-Soekarman; G Hamers; A L M Mulder; Jos P M Offermans; Jos Offermans; J J M Engelen; J C M van Lent-Albrechts; S G F Robben; Sabine M P F de Muinck Keizer-Schrama; K P Wolffenbuttel; Leendert H J Looijenga; J W Oosterhuis; C T R M Schrander-Stumpel; JG Nijhuis
Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype.
Prenatal diagnosis 2005;25(4):279-82.
2005: Madeleine R Brouns; Marian C E Peeters; Jan Geurts; Diane M Merckx; J J M Engelen; Johan W M Hekking; Els A W Terwindt-Rouwenhorst; Mariet E A C Oosterbaan; Joep P M Geraedts; Henny W M van Straaten
Toward positional cloning of the curly tail gene.
Birth defects research. Part A, Clinical and molecular teratology 2005;73(3):154-61.
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.
2005: J J M Engelen; Wim H Loneus; Gerrie Vaes-Peeters; C T R M Schrander-Stumpel
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.
American journal of medical genetics. Part A 2005;132A(3):276-7.
2005: H Y C Wanderley; C T R M Schrander-Stumpel; M O J M Visser; E A M Van Maanen-Op Het Roodt; Wim H Loneus; J J M Engelen
Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.
Genetic counseling (Geneva, Switzerland) 2005;16(3):277-82.
2004: Y H J M Arens; J J M Engelen; L C P Govaerts; C M van Ravenswaay; Wim H Loneus; J C M van Lent-Albrechts; M van der Blij-Philipsen; A J H Hamers; C T R M Schrander-Stumpel
Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.
American journal of medical genetics. Part A 2004;130A(2):128-33.
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: Palma Finelli; Federica Natacci; Maria Teresa Bonati; Giulietta Gottardi; J J M Engelen; C E M de Die-Smulders; M Sala; Daniela Giardino; Lidia Larizza
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.
Journal of medical genetics 2004;41(7):e90.
2004: Dominique Marcus-Soekarman; G Hamers; S Velzeboer; JG Nijhuis; Wim H Loneus; Jos Herbergs; C E M de Die-Smulders; C T R M Schrander-Stumpel; J J M Engelen
Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes.
American journal of medical genetics. Part A 2004;124A(3):288-91.
2004: Ute Moog; J J M Engelen; B W Weber; M Van Gelderen; Jean Steyaert; F Baas; H M Sijstermans; Jean-Pierre Fryns
Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
Genetic counseling (Geneva, Switzerland) 2004;15(1):73-80.
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: Joke de Pater; L C P Govaerts; S A de Man; C J M van der Sijs-Bos; G C M L Christiaens; WM van Dam; Wim H Loneus; J J M Engelen
Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques.
Prenatal diagnosis 2003;23(9):747-51.
2003: Ute Moog; J J M Engelen; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Chromosome bands and ends revisited.
American journal of medical genetics. Part A 2003;121A(1):88-9.
2003: J J M Engelen; Ute Moog; J Weber; A A M Haagen; C M J van Uum; A J H Hamers
Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.
American journal of medical genetics. Part A 2003;119A(3):356-9.
2003: J J M Engelen; Y H J M Arens; E T C M Gondrie; M G P Alofs; Wim H Loneus; A J H Hamers
Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers.
American journal of medical genetics. Part A 2003;118A(3):287-9.
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.
2003: Ute Moog; J J M Engelen; Henny M J van Schrojenstein Lantman-de Valk; Sandra D Driessen; Jean-Pierre Fryns
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
Clinical dysmorphology 2003;12(1):35-9.
2002: Joke de Pater; PF Ippel; WM van Dam; Wim H Loneus; J J M Engelen
Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH.
Clinical genetics 2002;62(6):482-7.
2002: W M A Verhoeven; Siegfried Tuinier; J J M Engelen; H T M Hollanders-Crombach; Leopold M G Curfs
Velo-cardio-facial syndrome: clinical report of a 70-year-old woman.
American journal of medical genetics 2002;111(4):409-11.
2002: J J M Engelen; C E M de Die-Smulders; R Dirckx; W M A Verhoeven; Siegfried Tuinier; Leopold M G Curfs; A J H Hamers
Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
American journal of medical genetics 2002;109(2):149-53.
2002: J J M Engelen; C E M de Die-Smulders; E Back
De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES.
Genetic counseling (Geneva, Switzerland) 2002;13(3):359-61.
2001: J F Sanchez-Garcia; C E M de Die-Smulders; J W Weber; A G Jetten; Wim H Loneus; A J H Hamers; J J M Engelen
De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.
American journal of medical genetics 2001;100(1):56-61.
2001: J J M Engelen; Carlo L M Marcelis; M G P Alofs; Wim H Loneus; CF Pulles-Heintzberger; A J H Hamers
De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection.
American journal of medical genetics 2001;99(1):48-53.
2001: Ute Moog; C E M de Die-Smulders; C T R M Schrander-Stumpel; J J M Engelen; A J H Hamers; Suzanna G M Frints; Jean-Pierre Fryns
Holoprosencephaly: the Maastricht experience.
Genetic counseling (Geneva, Switzerland) 2001;12(3):287-98.
2001: P R Rosias; J M Sijstermans; P M V M Theunissen; CF Pulles-Heintzberger; C E M de Die-Smulders; J J M Engelen; S B Van Der Meer
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Genetic counseling (Geneva, Switzerland) 2001;12(3):273-82.
2001: C E M de Die-Smulders; Ute Moog; J J M Engelen; J J Peters; A Damen; W Vos; JP Fryns
Lateral facial clefts: a case report.
Genetic counseling (Geneva, Switzerland) 2001;12(2):163-5.
2001: Carlo L M Marcelis; C T R M Schrander-Stumpel; J J M Engelen; Anneke M J Schoonbrood-Lenssen; A Willemse; Frits A Beemer; Sabine Sigaudy; Chantal Missirian; Nicole Philip; Jean-Pierre Fryns
Wolf-Hirschhorn (4P-) syndrome in adults.
Genetic counseling (Geneva, Switzerland) 2001;12(1):35-48.
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: Y H J M Arens; A Toutain; J J M Engelen; JP Offermans; A J H Hamers; Jaap J P Schrander; CF Pulles-Heintzberger; C T R M Schrander-Stumpel
Trisomy 7p: report of 2 patients and literature review.
Genetic counseling (Geneva, Switzerland) 2000;11(4):347-54.
2000: D J Mertens; C E M de Die-Smulders; P H Kampschöer; JP Offermans; J J M Engelen; A J H Hamers; M Lammens; C T R M Schrander-Stumpel
14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.
Genetic counseling (Geneva, Switzerland) 2000;11(4):341-6.
2000: L Spruijt; M van der Blij-Philipsen; J J M Engelen; C T R M Schrander-Stumpel
An adult patient with a distal interstitial 14q deletion: clinical report and literature review.
Genetic counseling (Geneva, Switzerland) 2000;11(4):335-40.
2000: M Bal; C T R M Schrander-Stumpel; LE Meers; P M V M Theunissen; A J H Hamers; M J Wennekes; J J M Engelen
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
Genetic counseling (Geneva, Switzerland) 2000;11(3):221-7.
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: 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: 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.
1998: Suzanna G M Frints; C T R M Schrander-Stumpel; E F Schoenmakers; J J M Engelen; A B Reekers; A M Van den Neucker; Eric E J Smeets; H Devlieger; Jean-Pierre Fryns
Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genetic counseling (Geneva, Switzerland) 1998;9(1):5-14.
1997: K E Chandler; C E M de Die-Smulders; J J M Engelen; Jaap J P Schrander
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.
European journal of pediatrics 1997;156(8):636-8.
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.
1997: K Chandler; C T R M Schrander-Stumpel; J J M Engelen; P M V M Theunissen; J P Fryns
Partial trisomy 15q: report of a patient and literature review.
Genetic counseling (Geneva, Switzerland) 1997;8(2):91-7.
1997: G Van de Graaf; J M Sijstermans; J J M Engelen; C T R M Schrander-Stumpel
Mild phenotype in interstitial 4p deletion: another patient and review of the literature.
Genetic counseling (Geneva, Switzerland) 1997;8(1):13-8.
1996: C E M de Die-Smulders; J J M Engelen
11Q duplication in a patient with Pitt-Rogers-Danks phenotype.
American journal of medical genetics 1996;66(1):116-7.
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; W J Loots; P C Motoh; Ute Moog; G J Hamers; Joep P M Geraedts
Marker chromosome identification by micro-FISH.
Clinical genetics 1996;49(5):242-8.
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.
1996: Suzanna G M Frints; C T R M Schrander-Stumpel; J J M Engelen; A J Da Costa; J P Fryns
Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.
Genetic counseling (Geneva, Switzerland) 1996;7(2):135-42.
1995: C E M de Die-Smulders; J J M Engelen; C T R M Schrander-Stumpel; L C P Govaerts; Bert B A de Vries; J S Vles; A Wagemans; S Schijns-Fleuren; G Gillessen-Kaesbach; J P Fryns
Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.
American journal of medical genetics 1995;59(3):369-74.
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.
1995: Astrid S Plomp; C T R M Schrander-Stumpel; J J M Engelen; J M Sijstermans; W H Loneus; J P Fryns
Interstitial deletion of the short arm of chromosome 8: report of a patient and review of the literature.
Genetic counseling (Geneva, Switzerland) 1995;6(1):55-60.
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: Harma Albering; J J M Engelen; L Koulischer; I J Welle; Jos C S Kleinjans
Indoor radon, an extrapulmonary genetic risk?
Lancet 1994;344(8924):750-1.
1994: C T R M Schrander-Stumpel; L C P Govaerts; J J M Engelen; M van der Blij-Philipsen; M Borghgraef; W J Loots; J J Peters; W P Rijnvos; Dominique Smeets; J P Fryns
Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
American journal of medical genetics 1994;50(4):377-80.
1994: H Meijer; Esther de Graaff; D M Merckx; R J Jongbloed; C E M de Die-Smulders; J J M Engelen; J P Fryns; P M Curfs; Ben A Oostra
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Human molecular genetics 1994;3(4):615-20.
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.
1994: C T R M Schrander-Stumpel; Willem-Jan M Gerver; H Meyer; J J M Engelen; H Mulder; J P Fryns
Prader-Willi-like phenotype in fragile X syndrome.
Clinical genetics 1994;45(4):175-80.
1993: L J Evers; C T R M Schrander-Stumpel; J J M Engelen; H Mulder; M Borghgraef; J P Fryns
Terminal deletion of long arm of chromosome 4: patient report and literature review.
Genetic counseling (Geneva, Switzerland) 1993;4(2):139-45.
1992: Harma Albering; GJ Hageman; Jos C S Kleinjans; J J M Engelen; L Koulishcer; C Herens
Indoor radon exposure and cytogenetic damage.
Lancet 1992;340(8821):739.
1992: J J M Engelen; A J H Hamers; C T R M Schrander-Stumpel; H Mulder; B Poorthuis
Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
Cytogenetics and cell genetics 1992;60(3-4):208-9.
1991: C E M de Die-Smulders; J J M Engelen; J M Donk; J P Fryns
Further evidence for the location of the BPES gene at 3q2.
Journal of medical genetics 1991;28(10):725.