Raoul C M Hennekam

Raoul C M Hennekam

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Raoul C M Hennekam

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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.

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

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

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

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

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.

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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.

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

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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.

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

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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.

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

[Desire for amputation in body integrity identity disorder].

Ned Tijdschr Geneeskd 2014 ;158:A7146

Academisch Medisch Centrum-Universiteit van Amsterdam, Amsterdam.

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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.

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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.

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

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

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

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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.

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

The persistent embryonic vein in Klippel-Trenaunay syndrome.

Vasc Med 2013 Aug;18(4):185-91

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

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http://dx.doi.org/10.1177/1358863X13498463DOI Listing
August 2013

Severe Cenani-Lenz syndrome caused by loss of LRP4 function.

Am J Med Genet A 2013 Jun 1;161A(6):1475-9. Epub 2013 May 1.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.35920DOI Listing
June 2013

Elements of morphology: standard terminology for the external genitalia.

Am J Med Genet A 2013 Jun 6;161A(6):1238-63. Epub 2013 May 6.

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

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http://dx.doi.org/10.1002/ajmg.a.35934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440541PMC
June 2013

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

J Med Genet 2013 May 15;50(5):339-44. Epub 2013 Mar 15.

Department of Pediatrics, Room H7-237, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101477DOI Listing
May 2013

Intellectual disability and hemizygous GPD2 mutation.

Am J Med Genet A 2013 May 29;161A(5):1044-50. Epub 2013 Mar 29.

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

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http://dx.doi.org/10.1002/ajmg.a.35873DOI Listing
May 2013

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

Am J Med Genet A 2013 Feb 15;161A(2):360-70. Epub 2013 Jan 15.

Department of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35732DOI Listing
February 2013

Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Nat Rev Gastroenterol Hepatol 2012 Nov 10;9(11):646-60. Epub 2012 Jul 10.

Department of Pediatric Gastrointestinal Motility and Nutrition, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9,C2-312, 1105 AZ Amsterdam, The Netherlands.

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http://www.nature.com/articles/nrgastro.2012.133
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http://dx.doi.org/10.1038/nrgastro.2012.133DOI Listing
November 2012

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

Am J Med Genet A 2012 Nov 18;158A(11):2756-62. Epub 2012 Sep 18.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.35627DOI Listing
November 2012

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):263-84. Epub 2012 Oct 5.

Laboratory Genetic Metabolic Diseases (F0-222), Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31346DOI Listing
November 2012

Development, cognition, and behaviour in Pitt-Hopkins syndrome.

Dev Med Child Neurol 2012 Oct 19;54(10):925-31. Epub 2012 Jun 19.

Jonx Department of Youth Mental Health, Lentis Psychiatric Institute, Zuidlaren, the Netherlands.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04339.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04339.xDOI Listing
October 2012

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

Biochim Biophys Acta 2012 Jul 14;1822(7):1096-108. Epub 2012 Apr 14.

Academic Medical Center, Emma Children's Hospital, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.001DOI Listing
July 2012

PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

Am J Med Genet A 2012 Jul 24;158A(7):1719-23. Epub 2012 May 24.

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

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http://dx.doi.org/10.1002/ajmg.a.35406DOI Listing
July 2012

The idic(15) syndrome: expanding the phenotype.

Am J Med Genet A 2012 Jun 14;158A(6):1505-8. Epub 2012 May 14.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.35366DOI Listing
June 2012

Editorial comment: New diagnostic criteria for Marfan syndrome.

Am J Med Genet A 2012 May 2;158A(5):980-1. Epub 2011 Dec 2.

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http://dx.doi.org/10.1002/ajmg.a.34394DOI Listing
May 2012

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions.

Hum Mutat 2012 May 13;33(5):781-6. Epub 2012 Apr 13.

1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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http://doi.wiley.com/10.1002/humu.22053
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http://dx.doi.org/10.1002/humu.22053DOI Listing
May 2012

Another cause of vaccine encephalopathy: a case of Angelman syndrome.

Eur J Med Genet 2012 May 25;55(5):338-41. Epub 2012 Jan 25.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, Queen Square, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120001
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http://dx.doi.org/10.1016/j.ejmg.2012.01.008DOI Listing
May 2012

Next-generation sequencing demands next-generation phenotyping.

Hum Mutat 2012 May 27;33(5):884-6. Epub 2012 Mar 27.

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

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http://dx.doi.org/10.1002/humu.22048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327792PMC
May 2012

Common causes of genetic epileptic encephalopathies.

Eur J Med Genet 2012 May 6;55(5):279-80. Epub 2012 Jun 6.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.001DOI Listing
May 2012

Non-immune hydrops fetalis: a short review of etiology and pathophysiology.

Am J Med Genet A 2012 Mar 2;158A(3):597-605. Epub 2012 Feb 2.

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

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http://dx.doi.org/10.1002/ajmg.a.34438DOI Listing
March 2012

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.

Eur J Med Genet 2012 Mar 28;55(3):191-5. Epub 2012 Jan 28.

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

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http://dx.doi.org/10.1016/j.ejmg.2012.01.009DOI Listing
March 2012

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

Am J Med Genet A 2012 Feb 2;158A(2):292-7. Epub 2011 Dec 2.

Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.

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http://www.researchgate.net/profile/Gretel_Oudesluijs/public
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http://doi.wiley.com/10.1002/ajmg.a.34396
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http://dx.doi.org/10.1002/ajmg.a.34396DOI Listing
February 2012

Care for patients with ultra-rare disorders.

Eur J Med Genet 2011 May-Jun;54(3):220-4. Epub 2010 Dec 10.

Department of Pediatrics, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.001DOI Listing
September 2011

A proposal for classification of entities combining vascular malformations and deregulated growth.

Eur J Med Genet 2011 May-Jun;54(3):262-71. Epub 2011 Feb 26.

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

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http://dx.doi.org/10.1016/j.ejmg.2011.02.007DOI Listing
September 2011

Rett syndrome: a study of the face.

Am J Med Genet A 2011 Jul 27;155A(7):1563-7. Epub 2011 May 27.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34027
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http://dx.doi.org/10.1002/ajmg.a.34027DOI Listing
July 2011

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

Department of Clinical Genetics, Academic Medical Centre, UVA, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33991
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http://dx.doi.org/10.1002/ajmg.a.33991DOI Listing
May 2011

A newborn with unusual morphology: some practical aspects.

Semin Fetal Neonatal Med 2011 Apr 23;16(2):109-13. Epub 2010 Dec 23.

Department of Paediatrics and Translational Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.siny.2010.12.002DOI Listing
April 2011

Growth charts for children with Ellis-van Creveld syndrome.

Eur J Pediatr 2011 Feb 10;170(2):207-11. Epub 2010 Sep 10.

Department of Pediatrics, Groene Hart Ziekenhuis, PO Box 1098, Gouda, The Netherlands.

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http://dx.doi.org/10.1007/s00431-010-1287-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022156PMC
February 2011

Rubinstein-Taybi syndrome (CREBBP, EP300).

Eur J Hum Genet 2011 Jan 28;19(1):preceeding 118-20. Epub 2010 Jul 28.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039496PMC
January 2011

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.

Am J Med Genet A 2011 Jan;155A(1):228-32

Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.33768DOI Listing
January 2011

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.

Am J Med Genet A 2010 Nov;152A(11):2810-5

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.33634
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http://dx.doi.org/10.1002/ajmg.a.33634DOI Listing
November 2010

Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

Eur J Med Genet 2010 Jul-Aug;53(4):192-6. Epub 2010 Apr 1.

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.009DOI Listing
October 2010

Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation.

Clin Dysmorphol 2010 Oct;19(4):212-4

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

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http://dx.doi.org/10.1097/MCD.0b013e32833bb5c6DOI Listing
October 2010

Familial clustering of giant congenital melanocytic nevi.

J Plast Reconstr Aesthet Surg 2010 Jun 22;63(6):906-13. Epub 2009 May 22.

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

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http://dx.doi.org/10.1016/j.bjps.2009.02.090DOI Listing
June 2010

MECP2 duplication in a patient with congenital central hypoventilation.

Am J Med Genet A 2010 Jun;152A(6):1591-3

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33311DOI Listing
June 2010

Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses.

Am J Med Genet A 2010 May;152A(5):1189-96

Neonatal Intensive Care Unit, Department of Pediatrics (DIPE), Gaslini Institute, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33191DOI Listing
May 2010

Monozygotic twins discordant for vascular malformations and dysregulated growth.

Eur J Med Genet 2010 Jan-Feb;53(1):14-8. Epub 2009 Aug 28.

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

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http://dx.doi.org/10.1016/j.ejmg.2009.08.004DOI Listing
April 2010

Interpreting humanity's genes.

Eur J Med Genet 2009 Nov-Dec;52(6):379-80. Epub 2009 Aug 12.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2009.08.002DOI Listing
February 2010

Prenatal and postnatal growth retardation, depressed nasal tip, oligodactyly, and mental retardation.

Clin Dysmorphol 2010 Jan;19(1):40-2

Department of Mother Child, Biology and Genetics, Paediatric Clinic University of Verona, Italy.

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http://dx.doi.org/10.1097/MCD.0b013e328333c220DOI Listing
January 2010

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33095
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http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

J Med Genet 2009 Oct 7;46(10):716-20. Epub 2009 Jul 7.

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

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http://dx.doi.org/10.1136/jmg.2009.068403DOI Listing
October 2009

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Am J Med Genet A 2009 Oct;149A(10):2212-5

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.a.33027DOI Listing
October 2009

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.

Am J Med Genet A 2009 Oct;149A(10):2254-7

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33003
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http://dx.doi.org/10.1002/ajmg.a.33003DOI Listing
October 2009

A diagnostic flow chart for non-immune hydrops fetalis.

Am J Med Genet A 2009 May;149A(5):852-3

Department of Pediatrics, University of Genoa, Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32677DOI Listing
May 2009

Morphological abnormalities in children with thyroidal congenital hypothyroidism.

Am J Med Genet A 2009 May;149A(5):943-51

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

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http://dx.doi.org/10.1002/ajmg.a.32777DOI Listing
May 2009