Raoul C Hennekam

Raoul C Hennekam

UNVERIFIED PROFILE

Are you Raoul C Hennekam?   Register this Author

Register author
Raoul C Hennekam

Raoul C Hennekam

Publications by authors named "Raoul C Hennekam"

Are you Raoul C Hennekam?   Register this Author

99Publications

4344Reads

15Profile Views

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Am J Med Genet A 2019 Aug 11;179(8):1547-1555. Epub 2019 Jun 11.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61260DOI Listing
August 2019

Thyroid function in males with fragile X syndrome.

J Pediatr Endocrinol Metab 2019 Aug;32(8):903-905

Department of Pediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2019-0224DOI Listing
August 2019

Multiple tumors due to mosaic genome-wide paternal uniparental disomy.

Pediatr Blood Cancer 2019 Jun 18;66(6):e27715. Epub 2019 Mar 18.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.27715DOI Listing
June 2019

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 Apr 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019

Development, behaviour and autism in individuals with SMC1A variants.

J Child Psychol Psychiatry 2019 Mar 8;60(3):305-313. Epub 2018 Oct 8.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/jcpp.12979
Publisher Site
http://dx.doi.org/10.1111/jcpp.12979DOI Listing
March 2019

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.

Am J Med Genet A 2018 11 8;176(11):2494-2500. Epub 2018 Sep 8.

Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40508DOI Listing
November 2018

Objectifying Micrognathia Using Three-Dimensional Photogrammetric Analysis.

J Craniofac Surg 2018 Nov;29(8):2106-2109

Big Data Institute and Nuffield Department of Obstetrics and Gynecology, University of Oxford, Oxford.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000005056DOI Listing
November 2018

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_138
Publisher Site
http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 2018

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Am J Med Genet A 2018 Aug 28;176(8):1703-1705. Epub 2018 Jul 28.

Teratology Unit, Departments of Pediatrics, Pathology and Obstetrics, University of Michigan, Ann Arbor, Michigan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38845DOI Listing
August 2018

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 03 23;176(3):597-608. Epub 2018 Jan 23.

Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838508PMC
March 2018

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

J Clin Endocrinol Metab 2018 02;103(2):415-428

Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article/103/2/415/4642964
Publisher Site
http://dx.doi.org/10.1210/jc.2017-01660DOI Listing
February 2018

Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review.

Pediatr Blood Cancer 2018 Jan 22;65(1). Epub 2017 Aug 22.

Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.26718DOI Listing
January 2018

Variants in KAT6A and pituitary anomalies.

Am J Med Genet A 2017 09 21;173(9):2562-2565. Epub 2017 Jun 21.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38330DOI Listing
September 2017

Correspondence to Gripp et al. nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Am J Med Genet A 2017 08 24;173(8):2293-2295. Epub 2017 May 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38290DOI Listing
August 2017

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Am J Med Genet A 2017 Jul 30;173(7):1896-1902. Epub 2017 Apr 30.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38124DOI Listing
July 2017

Behaviour in Cornelia de Lange syndrome: a systematic review.

Dev Med Child Neurol 2017 04 18;59(4):361-366. Epub 2016 Dec 18.

Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13361DOI Listing
April 2017

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Biochim Biophys Acta Mol Basis Dis 2017 03 24;1863(3):721-730. Epub 2016 Dec 24.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2016.12.010DOI Listing
March 2017

The Dutch legal approach regarding health care decisions involving minors in the NGS days.

Eur J Hum Genet 2017 02 23;25(2):166. Epub 2016 Nov 23.

Department of Public Health, AMC, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255957PMC
February 2017

Health-related quality of life in children with Robin sequence.

Am J Med Genet A 2017 Jan 20;173(1):54-61. Epub 2016 Sep 20.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37968DOI Listing
January 2017

Paediatric biobanking: Dutch experts reflecting on appropriate legal standards for practice.

Eur J Pediatr 2017 Jan 19;176(1):75-82. Epub 2016 Nov 19.

Department of Public Health, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-016-2810-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219008PMC
January 2017

Mutations in TBL1X Are Associated With Central Hypothyroidism.

J Clin Endocrinol Metab 2016 12 7;101(12):4564-4573. Epub 2016 Sep 7.

Department of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2016-2531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155687PMC
December 2016

Novel mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

J Med Genet 2016 Nov 22;53(11):776-785. Epub 2016 Jun 22.

Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, Oviedo, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103695DOI Listing
November 2016

3D morphometry aids facial analysis of individuals with a childhood cancer.

Am J Med Genet A 2016 11 2;170(11):2905-2915. Epub 2016 Aug 2.

Genetics & Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37850DOI Listing
November 2016

Application of the Dutch, Finnish and British Screening Guidelines in a Cohort of Children with Growth Failure.

Horm Res Paediatr 2015 9;84(6):376-82. Epub 2015 Oct 9.

Department of Pediatrics, Tergooi Hospitals, Blaricum, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000440652DOI Listing
October 2016

GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.

Am J Med Genet A 2016 Oct 19;170(10):2501-2. Epub 2016 Aug 19.

Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37760DOI Listing
October 2016

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Am J Med Genet A 2016 09 15;170(9):2248-60. Epub 2016 Jul 15.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37801DOI Listing
September 2016

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Am J Med Genet A 2016 08 19;170(8):1989-2001. Epub 2016 May 19.

Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37757DOI Listing
August 2016

Cow's milk allergy in Dutch children: an epigenetic pilot survey.

Clin Transl Allergy 2016 4;6:16. Epub 2016 May 4.

Department of Clinical Genetics, DNA-Diagnostics Laboratory, Amsterdam Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13601-016-0105-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855719PMC
May 2016

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Biochim Biophys Acta 2016 04 12;1862(4):754-762. Epub 2016 Jan 12.

Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2016.01.009DOI Listing
April 2016

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

Orphanet J Rare Dis 2016 Apr 12;11:37. Epub 2016 Apr 12.

Department of Paediatrics and Translational Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0422-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830011PMC
April 2016

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?

Clin Transl Allergy 2015 3;6. Epub 2016 Mar 3.

Department of Paediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13601-016-0096-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776421PMC
March 2016

Regulating biobanking with children's tissue: a legal analysis and the experts' view.

Eur J Hum Genet 2016 Jan 15;24(1):30-6. Epub 2015 Apr 15.

Departments of Paediatrics and Translational Genetics, AMC, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795222PMC
January 2016

Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.

Clin Endocrinol (Oxf) 2015 Nov 28;83(5):671-6. Epub 2015 Jul 28.

Department of Pediatric Endocrinology, VU Medical Center, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.12841DOI Listing
November 2015

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Am J Med Genet A 2015 Nov 20;167A(11):2508-15. Epub 2015 Jul 20.

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37248DOI Listing
November 2015

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 2015

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Am J Med Genet A 2015 Sep 31;167A(9):1983-92. Epub 2015 May 31.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37154DOI Listing
September 2015

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

Etiology of non-immune hydrops fetalis: An update.

Am J Med Genet A 2015 May 25;167A(5):1082-8. Epub 2015 Feb 25.

Neonatal Intensive Care Unit, Department of Intensive Care, Gaslini Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36988DOI Listing
May 2015

RELN rare variants in myoclonus-dystonia.

Mov Disord 2015 Mar 4;30(3):415-9. Epub 2015 Feb 4.

Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.26070DOI Listing
March 2015

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium.

J Craniomaxillofac Surg 2015 Jan 5;43(1):92-6. Epub 2014 Nov 5.

Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcms.2014.10.015DOI Listing
January 2015

Building treasures for rare disorders.

Eur J Med Genet 2015 Jan 4;58(1):11-3. Epub 2014 Nov 4.

Department of Paediatrics and Translational Genetics, AMC, University of Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.10.006DOI Listing
January 2015

[Desire for amputation in body integrity identity disorder].

Ned Tijdschr Geneeskd 2014 ;158:A7146

Academisch Medisch Centrum-Universiteit van Amsterdam, Amsterdam.

View Article

Download full-text PDF

Source
December 2014

Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Mol Syndromol 2014 Dec 25;5(6):299-303. Epub 2014 Sep 25.

Laboratory of Genetic Metabolic Diseasess, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000366074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281573PMC
December 2014

Face shape differs in phylogenetically related populations.

Eur J Hum Genet 2014 Nov 8;22(11):1268-71. Epub 2014 Jan 8.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200424PMC
November 2014

Ocular pterygium--digital keloid dysplasia.

Am J Med Genet A 2014 Nov 14;164A(11):2901-7. Epub 2014 Aug 14.

Instituto Nacional de Salud del Nino, Lima, Peru.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36713DOI Listing
November 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

J Invest Dermatol 2014 Sep 16;134(9):2331-2338. Epub 2014 Apr 16.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X153696
Publisher Site
http://dx.doi.org/10.1038/jid.2014.191DOI Listing
September 2014

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Hum Mol Genet 2014 Sep 8;23(18):5009-16. Epub 2014 May 8.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddu218DOI Listing
September 2014

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

Growth charts for individuals with Rubinstein-Taybi syndrome.

Am J Med Genet A 2014 Sep 2;164A(9):2300-9. Epub 2014 Jul 2.

Department of Pediatrics, Emma's Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36654DOI Listing
September 2014

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):302-14. Epub 2014 Aug 28.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31409DOI Listing
September 2014

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):327-32. Epub 2014 Aug 28.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31412DOI Listing
September 2014

Co-occurrence in body site of malformations and cancer.

Eur J Med Genet 2014 Aug 2;57(8):480-5. Epub 2014 May 2.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands; Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.04.013DOI Listing
August 2014

Genetics of common malformations.

Eur J Med Genet 2014 Aug 10;57(8):353-4. Epub 2014 Jun 10.

Department of Paediatrics and Translational Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.05.007DOI Listing
August 2014

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Brain tumors and syndromes in children.

Neuropediatrics 2014 Jun 17;45(3):137-61. Epub 2014 Feb 17.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1368116DOI Listing
June 2014

Clinical disorders of primary malfunctioning of the lymphatic system.

Adv Anat Embryol Cell Biol 2014 ;214:187-204

Neonatal Intensive Care Unit, Emergency Department, Gaslini Institute, Genoa, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/978-3-7091-1646-3_14
Publisher Site
http://dx.doi.org/10.1007/978-3-7091-1646-3_14DOI Listing
April 2014

Focal dermal hypoplasia without focal dermal hypoplasia.

Am J Med Genet A 2014 Mar 19;164A(3):778-81. Epub 2013 Dec 19.

Departamento de Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Mérida, Yucatán, México.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36341DOI Listing
March 2014