C. D. de Die-Smulders

发表

Präimplantationsdiagnostik in den Niederlanden

A. Paulussen, J. Geraedts, Edith Coonen, 2016, medizinische genetik.

Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.

J. Dreesen, C. D. de Die-Smulders, M. Drüsedau, 2008, Molecular human reproduction.

Biallelic Inactivation of BRCA2 in Fanconi Anemia

Hans Joenje, Edward A. Fox, Quinten Waisfisz, 2002, Science.

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

C. D. de Die-Smulders, P. Rosias, J. Sijstermans, 2001, Genetic counseling.

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

H. Smeets, C. D. de Die-Smulders, D. Hellebrekers, 2020, European Journal of Human Genetics.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

B. Oostra, J. Fryns, C. D. de Die-Smulders, 1994, Human molecular genetics.

Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

C. D. de Die-Smulders, E. Coonen, J. Dumoulin, 2000, Molecular human reproduction.

Age and causes of death in adult-onset myotonic dystrophy.

H. Smeets, C. D. de Die-Smulders, J. Geraedts, 1998, Brain : a journal of neurology.

Preimplantation Genetic Testing for Monogenic Kidney Disease.

A. Paulussen, N. Knoers, J. Dreesen, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study

Y. Pinto, S. Schalla, G. Snoep, 2012, Journal of Cardiovascular Magnetic Resonance.

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

A. Moll, H. Meijers-Heijboer, A. V. D. van den Ouweland, 2016, Familial Cancer.

Phenotypic and molecular insights into CASK-related disorders in males

R. Pfundt, D. Steinemann, B. Menten, 2015, Orphanet Journal of Rare Diseases.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

T. de Ravel, K. Devriendt, J. Vermeesch, 2009, Journal of Medical Genetics.

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

B. D. de Vries, J. Fryns, C. D. de Die-Smulders, 1995, American journal of medical genetics.

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

I. D. de Coo, H. Smeets, J. Dreesen, 2013, Journal of Medical Genetics.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Y. Pijnenburg, L. H. van den Berg, P. Heutink, 2012, Brain : a journal of neurology.

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

H. Smeets, M. Herbert, A. Paulussen, 2018, Human reproduction.

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

H. Smeets, M. Zeviani, A. Paulussen, 2017, Human reproduction.

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes

C. D. de Die-Smulders, J. Herbergs, J. Nijhuis, 2004, American journal of medical genetics. Part A.

A comprehensive strategy for exome-based preconception carrier screening.

H. Smeets, A. Paulussen, B. de Koning, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta‐like 3 mutations

S. Ellard, C. D. de Die-Smulders, N. Whittock, 2004, Clinical genetics.

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

H. Brunner, A. Paulussen, C. Gilissen, 2021, Genetics in Medicine.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

C. Saris, B. V. van Engelen, D. Barge-Schaapveld, 2019, Journal of neuromuscular diseases.

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

E. Bakker, M. Breuning, C. D. de Die-Smulders, 2012, European Journal of Human Genetics.

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

C. Henquet, H. Scheffer, C. D. de Die-Smulders, 1999, American journal of medical genetics.

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

J. Osinga, R. Hofstra, C. D. de Die-Smulders, 2002, Journal of medical genetics.

Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.

S. Tuinier, W. Verhoeven, C. D. de Die-Smulders, 2002, American journal of medical genetics.

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

L. Hoefsloot, B. Kremer, C. D. de Die-Smulders, 2006, American journal of medical genetics. Part A.

Unexpected molecular findings in 2 previously described brothers with Smith-Lemli-Opitz syndrome.

H. Waterham, J. Fryns, C. D. de Die-Smulders, 1999, Genetic counseling.

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

A. Paulussen, N. Muntjewerff, F. Broekmans, 2018, Journal of assisted reproduction and genetics.

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss

H. Smeets, P. Hofman, F. Spaans, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections.

I. Liebaers, C. D. de Die-Smulders, G. Evers‐Kiebooms, 2013, Human reproduction update.

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

C. D. de Die-Smulders, J. Schrander, K. Chandler, 1997, European Journal of Pediatrics.

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices

H. Smeets, A. Paulussen, J. Dreesen, 2017, Journal of Medical Genetics.

Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome.

J. Fryns, C. D. de Die-Smulders, P. Theunissen, 1994, American journal of medical genetics.

De novo mtDNA point mutations are common and have a low recurrence risk

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.

C. V. van Ravenswaaij-Arts, C. D. de Die-Smulders, E. Coonen, 2015, Human reproduction.

Mosaic expression of hypohidrotic ectodermal dysplasia in an isolated affected female child.

C. D. de Die-Smulders, J. Cassiman, P. Steijlen, 1994, Archives of dermatology.

Oculoauriculovertebral spectrum and cerebral anomalies.

R. Hennekam, J. Fryns, C. D. de Die-Smulders, 1992, Journal of medical genetics.

[Results from 10 years of preimplantation-genetic diagnostics in The Netherlands].

J. Dreesen, C. D. de Die-Smulders, E. Coonen, 2004, Nederlands tijdschrift voor geneeskunde.

Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH

C. D. de Die-Smulders, E. Coonen, J. Geraedts, 1998, Human Genetics.

The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report.

J. Fryns, C. D. de Die-Smulders, J. A. Zandvoort, 1990, European journal of obstetrics, gynecology, and reproductive biology.

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

C. D. de Die-Smulders, A. Stegmann, J. Engelen, 2011, European journal of medical genetics.

Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: a distinct MCA/MR syndrome?

J. Fryns, C. D. de Die-Smulders, H. Vles, 1993, Genetic counseling.

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

A. Paulussen, A. Leutenegger, A. Toutain, 2019, RNA.

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.

The lethal multiple pterygium syndrome: a nosological approach.

J. Fryns, C. D. de Die-Smulders, C. Schrander-Stumpel, 1990, Genetic counseling.

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.

E. Zackai, M. Muenke, D. Viskochil, 1995, Human molecular genetics.

Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy.

C. D. de Die-Smulders, P. Sastrowijoto, M. Sturkenboom, 1995, Teratology.

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.

Joris Robert Vermeesch, Joke Allemeersch, Heleen Masset, 2019, Human reproduction.

11Q duplication in a patient with Pitt-Rogers-Danks phenotype.

C. D. de Die-Smulders, J. Engelen, 1996, American journal of medical genetics.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

C. D. de Die-Smulders, J. Engelen, J. Weber, 2001, American journal of medical genetics.

Paternal transmission of congenital myotonic dystrophy.

H. Smeets, C. D. de Die-Smulders, J. Geraedts, 1997, Journal of medical genetics.

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour

F. Natacci, C. D. de Die-Smulders, D. Giardino, 2004, Journal of Medical Genetics.

Delusional and psychotic disorders in juvenile myotonic dystrophy type‐1

J. Steyaert, C. D. de Die-Smulders, D. Willekens, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

J. Fryns, P. Moerman, C. D. de Die-Smulders, 1999, Journal of Medical Genetics.

Two Dutch brothers with Borrone dermato‐cardio‐skeletal syndrome

T. Delhaas, C. D. de Die-Smulders, R. Ceulen, 2007, American journal of medical genetics. Part A.

A comprehensive strategy for exome-based preconception carrier screening

H. Smeets, A. Paulussen, B. de Koning, 2016, Genetics in Medicine.

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

W. Brown, B. Oostra, E. Graaff, 1995, American journal of human genetics.

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

C. D. de Die-Smulders, S. Kemp, M. de Visser, 1997, Human Genetics.

Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

H. Smeets, H. Brunner, C. D. de Die-Smulders, 1994, Journal of medical genetics.

An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

J. Timmermans, M. Kempers, E. Fransen, 2014, Human mutation.

PLS3 mutations in X-linked osteoporosis with fractures.

A. Hofman, A. Uitterlinden, B. Wirth, 2013, The New England journal of medicine.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Lateral facial clefts: a case report.

J. Fryns, C. D. de Die-Smulders, U. Moog, 2001, Genetic counseling.

[Genetic diagnosis of IVF embryos: preliminary results from 'preimplantation genetic diagnoses' in the Netherlands].

J. Dreesen, C. D. de Die-Smulders, E. Coonen, 1998, Nederlandsch tijdschrift voor geneeskunde.

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

H. Smeets, M. Koenig, J. Mandel, 2010, Human molecular genetics.

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

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.

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

J. Fryns, C. D. de Die-Smulders, H. van den Berghe, 1991, American journal of medical genetics.

Preimplantation genetic diagnosis of spinal muscular atrophy.

C. D. de Die-Smulders, H. Smeets, J. Dumoulin, 1998, Molecular human reproduction.

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.

Holoprosencephaly: the Maastricht experience.

J. Fryns, C. D. de Die-Smulders, U. Moog, 2001, Genetic counseling.

Surgical management for isolated macrodactyly in an adult PIK3CA mutant

C. D. de Die-Smulders, T. Lauwers, M. Vreeburg, 2020, JPRAS Open.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

H. Smeets, A. Plomp, C. D. de Die-Smulders, 2006, American journal of ophthalmology.

An Unusual Triad in Pediatric Neurology

C. D. de Die-Smulders, J. Vles, G. Hoogland, 2016, Child neurology open.

Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy.

J. Steyaert, J. Fryns, C. D. de Die-Smulders, 2000, Genetic counseling.

Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations.

C. D. de Die-Smulders, U. Moog, E. Bleeker-Wagemakers, 1996, Genetic counseling.

Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?

J. Fryns, C. D. de Die-Smulders, R. Droog, 1993, Journal of Medical Genetics.

Smith-Lemli-Opitz syndrome: the changing phenotype with age.

J. Fryns, C. D. de Die-Smulders, 1992, Genetic counseling.

Further evidence for the location of the BPES gene at 3q2.

J. Fryns, C. D. de Die-Smulders, J. Engelen, 1991, Journal of medical genetics.

De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES.

C. D. de Die-Smulders, J. Engelen, E. Back, 2002, Genetic counseling.

Disease Onset in Huntington's Disease: When Is the Conversion?

R. Roos, S. Tabrizi, A. Durr, 2021, Movement disorders clinical practice.

Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites

C. D. de Die-Smulders, J. Groener, M. Claeys, 1999, Journal of Inherited Metabolic Disease.

The cerebro-costo-mandibular syndrome: seven patients and review of the literature.

B. Hamel, J. van den Ende, C. D. de Die-Smulders, 1998, Clinical dysmorphology.

Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.

J. Fryns, C. D. de Die-Smulders, J. Schrander, 1996, Genetic counseling.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

H. Smeets, B. J. van den Bosch, C. D. de Die-Smulders, 2000, Nucleic acids research.

Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.

J. Dreesen, C. D. de Die-Smulders, M. Drüsedau, 2004, Molecular human reproduction.

Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect

E. Bakker, M. Breuning, D. Peters, 2002, Journal of medical genetics.

Management of sleeping problems in Wolf-Hirschhorn syndrome: a case study.

R. Didden, C. D. de Die-Smulders, L. Curfs, 1999, Genetic Counseling.

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

C. D. de Die-Smulders, W. Dondorp, G. de Wert, 2019, Journal of Huntington's disease.

The fragile X syndrome: no evidence for any recent mutations.

S. Warren, B. V. van Oost, A. Smits, 1993, Journal of medical genetics.

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

J. Fryns, C. D. de Die-Smulders, H. van den Berghe, 1992, American journal of medical genetics.

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.

F. Broekmans, C. D. de Die-Smulders, E. Coonen, 2019, Fertility and sterility.

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy

P. van Paassen, H. Scheepers, U. Beuers, 2019, Hepatology.

Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.

J. Fryns, C. D. de Die-Smulders, C. Schrander‐Stumpel, 1993, Genetic counseling.

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

W. Wuyts, C. D. de Die-Smulders, W. Van Hul, 2005, American journal of medical genetics. Part A.

Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience

A. Paulussen, C. Stumpel, J. Dreesen, 2023, European Journal of Human Genetics.

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

H. Smeets, C. D. de Die-Smulders, D. Hellebrekers, 2020, European Journal of Human Genetics.

Peripheral neuropathy in myotonic dystrophy type 1

C. D. de Die-Smulders, M. D. de Baets, I. Merkies, 2011, Journal of the peripheral nervous system : JPNS.

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.

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

J. Fryns, A. Plomp, C. D. de Die-Smulders, 1995, Genetic counseling.

Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children

R. Roos, C. D. de Die-Smulders, E. Bijlsma, 2020, Brain sciences.

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

C. D. de Die-Smulders, C. Willekes, F. Roumen, 1994, Prenatal diagnosis.

The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age.

C. D. de Die-Smulders, E. Smeets, L. Curfs, 2009, Genetic counseling.

PLS3 mutations in X-linked osteoporosis with fractures.

B. Wirth, G. Pals, Q. Waisfisz, 2013, The New England journal of medicine.

Confirmation of defective cholesterol biosynthesis in 2 previously described adult sibs with Smith-Lemli-Opitz syndrome.

J. Fryns, C. D. de Die-Smulders, L. Spaapen, 1996, Genetic counseling.

Predictive genetic testing in Huntington’s disease: should a neurologist be involved?

R. Roos, C. D. de Die-Smulders, E. Bijlsma, 2020, European Journal of Human Genetics.

Reply to Oliver W. Quarrell et al.: Letter in response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

C. D. de Die-Smulders, W. Dondorp, G. de Wert, 2019, Journal of Huntington's disease.

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences

A. Clarke, R. Macleod, Z. Miedzybrodzka, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Reply to Oliver W Quarrell et al.: "Letter in response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners".

C. D. de Die-Smulders, W. Dondorp, G. de Wert, 2019, Journal of Huntington's disease.