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C E M de Die-Smulders

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C E M de Die-Smulders; G M W R De Wert; Inge Liebaers; A Tibben; G Evers-Kiebooms
Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.
Suzanne C E H Sallevelt; Sabine Spierts; Ronald J T van Golde; Florence H J van Tienen; Edith Coonen; I F M de Coo; C E M de Die-Smulders; J C F M Dreesen; Marion Drüsedau; Joep P M Geraedts; Hubert J M Smeets
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
M C van Rij; E K Bijlsma; C E M de Die-Smulders; G M W R De Wert; Joep P M Geraedts; R A C Roos; A Tibben
Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

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2013: C E M de Die-Smulders; G M W R De Wert; Inge Liebaers; A Tibben; G Evers-Kiebooms
Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.
Human reproduction update 2013;19(3):304-15.
2013: Suzanne C E H Sallevelt; Sabine Spierts; Ronald J T van Golde; Florence H J van Tienen; Edith Coonen; I F M de Coo; C E M de Die-Smulders; J C F M Dreesen; Marion Drüsedau; Joep P M Geraedts; Hubert J M Smeets
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
Journal of medical genetics 2013;50(2):125-32.
2013: M C van Rij; E K Bijlsma; C E M de Die-Smulders; G M W R De Wert; Joep P M Geraedts; R A C Roos; A Tibben
Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.
Clinical genetics 2013;83(2):118-24.
2013: A T J M Helderman-van den Enden; Kamlesh Madan; Annemieke H van der Hout; Egbert Bakker; Martijn H Breuning; C E M de Die-Smulders; HB Ginjaar
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
European journal of human genetics : EJHG 2013;21(1):21-6.
2012: Maartje C Van Rij; Stéphane Viville; C E M de Die-Smulders; Marjan De Rademaeker; Martine De Rycke; J C F M Dreesen; Joep P M Geraedts; Inge Liebaers; Céline Moutou
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
European journal of human genetics : EJHG 2012;20(4):368-75.
2011: Antina de Jong; Wybo J Dondorp; Suzanna G M Frints; C E M de Die-Smulders; Guido de Wert
Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.
Human reproduction (Oxford, England) 2011;26(11):2915-7.
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.
2011: Maartje C van Rij; Johannes L H Evers; Joep P M Geraedts; Marij Gielen; Rutger Lulofs; Nienke Muntjewerff; Liesbeth van Osch; C E M de Die-Smulders
Profiles and motives for PGD: a prospective cohort study of couples referred for PGD in the Netherlands.
Human reproduction (Oxford, England) 2011;26(7):1826-35.
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: M C E Hermans; Y M Pinto; I S J Merkies; C E M de Die-Smulders; H J G M Crijns; C G Faber
Hereditary muscular dystrophies and the heart.
Neuromuscular disorders : NMD 2010;20(8):479-92.
2010: André B P van Kuilenburg; J Meijer; G Gökcay; T Baykal; M E Rubio-Gozalbo; A N P M Mul; C E M de Die-Smulders; P Weber; A Capone Mori; J Bierau; B Fowler; K Macke; Jörn Oliver Sass; Rutger Meinsma; J B Hennermann; Peter Miny; Lida Zoetekouw; J Roelofsen; Raymon Vijzelaar; J Nicolai; R C M Hennekam
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
Nucleosides, nucleotides & nucleic acids 2010;29(4-6):509-14.
2009: I A W van Rijsingen; J F Hermans-van Ast; Y H J M Arens; S M Schalla; C E M de Die-Smulders; A van den Wijngaard; Y M Pinto
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2009;17(12):458-63.
2009: M J Blok; B J van den Bosch; E Jongen; A T M Hendrickx; C E M de Die-Smulders; J E Hoogendijk; E Brusse; M de Visser; B T Poll-The; J Bierau; I F M de Coo; H J M Smeets
The unfolding clinical spectrum of POLG mutations.
Journal of medical genetics 2009;46(11):776-85.
2009: F Spaans; C G Faber; H J M Smeets; P A M Hofman; C Braida; D G Monckton; C E M de Die-Smulders
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss.
Journal of neurology, neurosurgery, and psychiatry 2009;80(9):1029-35.
2009: L J M Evers; C E M de Die-Smulders; E E J Smeets; M G M Clerkx; L M G Curfs
The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age.
Genetic counseling (Geneva, Switzerland) 2009;20(4):307-15.
2008: A L Bredenoord; W Dondorp; Guido Pennings; C E M de Die-Smulders; Guido de Wert
PGD to reduce reproductive risk: the case of mitochondrial DNA disorders.
Human reproduction (Oxford, England) 2008;23(11):2392-401.
2008: J C F M Dreesen; M Drüsedau; H J M Smeets; C E M de Die-Smulders; Edith Coonen; John C M Dumoulin; M Gielen; J Evers; Jos Herbergs; Joep P M Geraedts
Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.
Molecular human reproduction 2008;14(10):573-9.
2008: C E M de Die-Smulders; J A Land; G C M L Page-Christiaens; Johannes Evers
[Examples of preimplantation genetic diagnosis versus prenatal diagnosis in carriers of genetic abnormalities: advantages and disadvantages].
Nederlands tijdschrift voor geneeskunde 2008;152(27):1545; author reply 1546.
2008: Martinus F Niermeijer; C E M de Die-Smulders; G C M L Page-Christiaens; G M W R De Wert
[Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis].
Nederlands tijdschrift voor geneeskunde 2008;152(27):1503-6.
2007: Maurice A M van Steensel; R P M Ceulen; Tammo Delhaas; C E M de Die-Smulders
Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome.
American journal of medical genetics. Part A 2007;143A(11):1223-6.
2006: Liesbeth Spruijt; Lies Hoefsloot; G H W H van Schaijk; D van Waardenburg; B Kremer; H J L Brackel; C E M de Die-Smulders
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
American journal of medical genetics. Part A 2006;140(12):1343-5.
2006: Antonia H C M L Schreuder; C E M de Die-Smulders; J Herbergs; Peter J Koehler
[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy].
Nederlands tijdschrift voor geneeskunde 2006;150(20):1124-6.
2006: Liesbeth Spruijt; Dinanda N Kolbach; René F M de Coo; Astrid S Plomp; Noel J Bauer; H J M Smeets; C E M de Die-Smulders
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.
American journal of ophthalmology 2006;141(4):676-82.
2005: Maurice A M van Steensel; M Vreeburg; Peter M Steijlen; C E M de Die-Smulders
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.
American journal of medical genetics. Part A 2005;139A(2):127-30.
2005: Liesbeth Spruijt; Pieter Verdyck; Wim Van Hul; Wim Wuyts; C E M de Die-Smulders
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).
American journal of medical genetics. Part A 2005;139(1):45-7.
2005: C E M de Die-Smulders; C G Faber; H J M Smeets
[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].
Nederlands tijdschrift voor geneeskunde 2005;149(37):2043-6.
2005: Dorien J M Peters; Monique Losekoot; C E M de Die-Smulders; M Stevens-Baldewijns; M H Breuning
[From gene to disease; PKHD1 and recessive polycystic kidney disease].
Nederlands tijdschrift voor geneeskunde 2005;149(9):463-6.
2004: C E M de Die-Smulders; Jolande A Land; J C F M Dreesen; Edith Coonen; Johannes Evers; Joep P M Geraedts
[Results from 10 years of preimplantation-genetic diagnostics in The Netherlands].
Nederlands tijdschrift voor geneeskunde 2004;148(50):2491-6.
2004: Charlotte J Dommering; Annette C Moll; Saskia M Imhof; C E M de Die-Smulders; Edith Coonen
Another liveborn after preimplantation genetic diagnosis for retinoblastoma.
American journal of ophthalmology 2004;138(6):1088-9.
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: Neil Whittock; Sian Ellard; J Duncan; C E M de Die-Smulders; Johan S H Vles; Peter D Turnpenny
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Clinical genetics 2004;66(1):67-72.
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: M Drüsedau; J C F M Dreesen; C E M de Die-Smulders; K Hardy; Marijke Bras; John C M Dumoulin; J L H Evers; H J M Smeets; Joep P M Geraedts; Jos Herbergs
Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.
Molecular human reproduction 2004;10(1):71-5.
2002: Johannes G Dauwerse; C E M de Die-Smulders; Egbert Bakker; Martijn H Breuning; Dorien J M Peters
Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect.
Journal of medical genetics 2002;39(9):686-8.
2002: Niall G Howlett; Toshiyasu Taniguchi; Susan B Olson; Barbara Cox; Quinten Waisfisz; C E M de Die-Smulders; Nicole Persky; Markus Grompe; Hans Joenje; Gerard Pals; Hideyuki Ikeda; Edward A Fox; Alan D D'Andrea
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science (New York, N.Y.) 2002;297(5581):606-9.
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: Robert M W Hofstra; Peter Elfferich; Jan Osinga; Edwin Verlind; E Fransen; J López Pisón; C E M de Die-Smulders; I Stolte-Dijkstra; Charles H C M Buys
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
Journal of medical genetics 2002;39(3):E11.
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: 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.
2000: Jean Steyaert; C E M de Die-Smulders; Jean-Pierre Fryns; E Goossens; Diane Willekens
Behavioral phenotype in childhood type of dystrophia myotonica.
American journal of medical genetics 2000;96(6):888-9.
2000: B J C van den Bosch; René F M de Coo; Hans R Scholte; JG Nijland; R van Den Bogaard; M de Visser; C E M de Die-Smulders; H J M Smeets
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.
Nucleic acids research 2000;28(20):E89.
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: Edith Coonen; E Martini; John C M Dumoulin; H T Hollanders-Crombach; C E M de Die-Smulders; Joep P M Geraedts; Anton H N Hopman; Johannes Evers
Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.
Molecular human reproduction 2000;6(3):199-206.
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: E Goossens; Jean Steyaert; C E M de Die-Smulders; Diane Willekens; Jean-Pierre Fryns
Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy.
Genetic counseling (Geneva, Switzerland) 2000;11(4):317-27.
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: Ute Moog; C E M de Die-Smulders; Hans Scheffer; Pieter van der Vlies; Cécile Henquet; M F Jonkman
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
American journal of medical genetics 1999;86(4):376-9.
1999: H C Janssen; C Schaap; N Vandevijver; PL Moerman; C E M de Die-Smulders; JP Fryns
Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?
Journal of medical genetics 1999;36(6):481-4.
1999: M Claeys; Mark A van der Hoeven; C E M de Die-Smulders; Jaap Bakker; J P Offermans; P Ph Forget; Johanna E M Groener; L J M Spaapen
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites.
Journal of inherited metabolic disease 1999;22(5):666-7.
1999: Leopold M G Curfs; Robert Didden; S P Sikkema; C E M de Die-Smulders
Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study.
Genetic counseling (Geneva, Switzerland) 1999;10(4):345-50.
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.
1998: C E M de Die-Smulders; Joep P M Geraedts; J C F M Dreesen; Edith Coonen; Jolande A Land
[Genetic diagnosis of IVF embryos: preliminary results from 'preimplantation genetic diagnoses' in the Netherlands].
Nederlands tijdschrift voor geneeskunde 1998;142(45):2441-4.
1998: J C F M Dreesen; Marijke Bras; C E M de Die-Smulders; John C M Dumoulin; JM Cobben; Johannes Evers; H J M Smeets; Joep P M Geraedts
Preimplantation genetic diagnosis of spinal muscular atrophy.
Molecular human reproduction 1998;4(9):881-5.
1998: C E M de Die-Smulders; C J Höweler; C Thijs; J F Mirandolle; H B Anten; H J M Smeets; K E Chandler; Joep P M Geraedts
Age and causes of death in adult-onset myotonic dystrophy.
Brain : a journal of neurology 1998;121 ( Pt 8)():1557-63.
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: E Martini; Anne von Bergh; Edith Coonen; C E M de Die-Smulders; Anton H N Hopman; Frans C S Ramaekers; Joep P M Geraedts
Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH.
Human genetics 1998;102(2):157-65.
1998: Astrid S Plomp; B C Hamel; J M Cobben; Alain Verloes; JP Offermans; E Lajeunie; JP Fryns; C E M de Die-Smulders
Pfeiffer syndrome type 2: further delineation and review of the literature.
American journal of medical genetics 1998;75(3):245-51.
1998: N Vandevijver; C E M de Die-Smulders; JP Offermans; E S Van Der Linden; J W Arends; S H Sastrowijoto; PL Moerman; JP Fryns
Lethal hypophosphatasia, spur type: case report and fetopathological study.
Genetic counseling (Geneva, Switzerland) 1998;9(3):205-9.
1997: C E M de Die-Smulders; H J M Smeets; WJ Loots; H B Anten; J F Mirandolle; Joep P M Geraedts; C J Höweler
Paternal transmission of congenital myotonic dystrophy.
Journal of medical genetics 1997;34(11):930-3.
1997: Ute Moog; C E M de Die-Smulders; J M Systermans; JM Cobben
Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.
Clinical genetics 1997;52(4):219-25.
1997: Jean Steyaert; S Umans; Diane Willekens; Eric Legius; E Pijkels; C E M de Die-Smulders; H Van den Berghe; Jean-Pierre Fryns
A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.
Clinical genetics 1997;52(3):135-41.
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: A M Zwamborn-Hanssen; J B Bijlsma; E F Hennekam; Dick Lindhout; Frits A Beemer; E Bakker; W J Kleijer; HF de France; C E M de Die-Smulders; M Duran; A H van Gennip; J T van Mens; P L Pearson; G Mantel; R E Verhage; Joep P M Geraedts
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.
American journal of medical genetics 1997;70(4):444-7.
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; G Krüger; B Stengel; C E M de Die-Smulders; S Dykstra; E Bleeker-Wagemakers
Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations.
Genetic counseling (Geneva, Switzerland) 1996;7(4):257-65.
1996: C T R M Schrander-Stumpel; S van der Meer; C E M de Die-Smulders; P Meinecke; E Rupprecht; P Maroteaux; J Schrander; J P Fryns
Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.
Genetic counseling (Geneva, Switzerland) 1996;7(1):71-2.
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: C E M de Die-Smulders; M C Sturkenboom; J C J M Veraart; C van Katwijk; P Sastrowijoto; Edith Van Der Linden
Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.
Teratology 1995;52(4):215-9.
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: Esther de Graaff; Rob Willemsen; N Zhong; C E M de Die-Smulders; W T Brown; G Freling; Ben A Oostra
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.
American journal of human genetics 1995;57(3):609-18.
1995: Astrid S Plomp; C E M de Die-Smulders; P Meinecke; J M Ypma-Verhulst; D A Lissone; J P Fryns
Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.
Genetic counseling (Geneva, Switzerland) 1995;6(3):259-68.
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: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns; P Theunissen
Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome.
American journal of medical genetics 1994;52(3):363.
1994: C E M de Die-Smulders; C J Höweler; J F Mirandolle; Han G Brunner; V Hovers; H Brüggenwirth; H J M Smeets; Joep P M Geraedts
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.
Journal of medical genetics 1994;31(8):595-601.
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 Willekes; F J Roumen; A M van Elsacker-Niele; H T Weiland; C Vermey-Keers; J H van Krieken; C E M de Die-Smulders; G J Hamers; G P Vaes-Peters
Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis.
Prenatal diagnosis 1994;14(3):181-5.
1994: C E M de Die-Smulders; H van Schrojenstein Lantman-De Valk; J P Fryns
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.
Genetic counseling (Geneva, Switzerland) 1994;5(1):73-5.
1993: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns
Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: a 4p deletion?
American journal of medical genetics 1993;47(6):936.
1993: C T R M Schrander-Stumpel; C E M de Die-Smulders; M C T F M de Krom; S Schyns-Fleuran; B Hamel; D Jaeken; J P Fryns
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Clinical genetics 1993;43(6):303-8.
1993: C E M de Die-Smulders; R P Droog; M van Dijk; J P Fryns
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?
Journal of medical genetics 1993;30(6):525.
1993: Arie P T Smits; J C F M Dreesen; J G Post; Dominique Smeets; C E M de Die-Smulders; T Spaans-van der Bijl; L C P Govaerts; Stephen Warren; Ben A Oostra; BA van Oost
The fragile X syndrome: no evidence for any recent mutations.
Journal of medical genetics 1993;30(2):94-6.
1993: C E M de Die-Smulders; H Vles; J P Fryns
Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome?
Genetic counseling (Geneva, Switzerland) 1993;4(2):165-7.
1993: C T R M Schrander-Stumpel; J B De Groot-Wijnands; C E M de Die-Smulders; J P Fryns
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Genetic counseling (Geneva, Switzerland) 1993;4(4):271-6.
1993: J S Vles; C E M de Die-Smulders; Mark A van der Hoeven; J P Fryns
Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy.
Genetic counseling (Geneva, Switzerland) 1993;4(3):239-40.
1992: C Schaap; C E M de Die-Smulders; R H Kuijten; J P Fryns
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.
European journal of pediatrics 1992;151(8):583-5.
1992: C T R M Schrander-Stumpel; C E M de Die-Smulders; Raoul Hennekam; J P Fryns; P X Bouckaert; O F Brouwer; J J da Costa; E J Lommen; P D Maaswinkel-Mooy
Oculoauriculovertebral spectrum and cerebral anomalies.
Journal of medical genetics 1992;29(5):326-31.
1992: J P Fryns; C T R M Schrander-Stumpel; C E M de Die-Smulders; Martine Borghgraef; Herman Van Den Berghe
MASA syndrome: delineation of the clinical spectrum at prepubertal age.
American journal of medical genetics 1992;43(1-2):402-7.
1992: C E M de Die-Smulders; P Theunissen; C T R M Schrander-Stumpel; J P Frijns
On the variable expression of the Brachmann-de Lange syndrome.
Clinical genetics 1992;41(1):42-5.
1991: Arthur Spaepen; C T R M Schrander-Stumpel; J P Fryns; C E M de Die-Smulders; Martine Borghgraef; Herman Van Den Berghe
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
American journal of medical genetics 1991;41(4):517-20.
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.
1990: C T R M Schrander-Stumpel; C E M de Die-Smulders; J P Fryns; J da Costa; P Bouckaert
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
American journal of medical genetics 1990;37(1):133-5.
1990: C E M de Die-Smulders; H J Vonsée; J A Zandvoort; J P Fryns
The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report.
European journal of obstetrics, gynecology, and reproductive biology 1990;35(2-3):283-9.
1990: C E M de Die-Smulders; C T R M Schrander-Stumpel; J P Fryns
The lethal multiple pterygium syndrome: a nosological approach.
Genetic counseling (Geneva, Switzerland) 1990;1(1):13-23.
1987: A J H Hamers; G P Vaes-Peeters; R J Jongbloed; A M Millington-Ward; H Meijer; C E M de Die-Smulders; Joep P M Geraedts
On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms.
Clinical genetics 1987;32(6):409-13.