WorldCat Identities

Hennekam, Raoul C. M.

Overview
Works: 13 works in 47 publications in 2 languages and 480 library holdings
Roles: Author, Editor, Contributor
Publication Timeline
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Most widely held works by Raoul C. M Hennekam
Syndromes of the head and neck by Robert J Gorlin( Book )

14 editions published in 2001 in English and held by 254 WorldCat member libraries worldwide

1. Deformations and Disruptions2. Teratogenic Agents3. Chromosomal Syndromes: Common and/or Well-Known Syndromes4. Chromosomal Syndromes: Unusual Variants5. Metabolic Disorders6. Syndromes Affecting Bone: The Osteogenesis Imperfectas7. Syndromes Affecting Bone: Chondrodysplasias and Chondrodystrophies8. Syndromes Affecting Bone: Craniotubular Bone Disorders9. Syndromes Affecting Bone: Other Skeletal Dysplasias10. Proportionate Short Stature Syndromes11. Overgrowth Syndromes and Postnatal Onset Obesity Syndromes12. Hamartoneoplastic Syndromes13. Syndromes Affecting the Skin and Mucosa14. Syndro
Gorlin's syndromes of the head and neck by Raoul C. M Hennekam( Book )

14 editions published between 2001 and 2010 in English and held by 175 WorldCat member libraries worldwide

"This classic text covers over 700 different genetic syndromes affecting body structures, and has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field." "New syndromes have been added to this edition and existing syndromes have been updated. This book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolaryngologists, and dentists"--Jacket
Fladderen met de vlinders by Raoul C. M Hennekam( )

4 editions published between 2003 and 2004 in Dutch and held by 28 WorldCat member libraries worldwide

The Rubinstein-Taybi syndrome in the Netherlands : a clinical genetic survey by Raoul C. M Hennekam( Book )

5 editions published in 1990 in English and held by 11 WorldCat member libraries worldwide

Genetics for the clinician( Book )

2 editions published in 1998 in English and held by 5 WorldCat member libraries worldwide

Het Rubinstein-Taybi syndroom in Nederland by Raoul C. M Hennekam( Book )

1 edition published in 1989 in Dutch and held by 1 WorldCat member library worldwide

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism( )

1 edition published in 2007 in English and held by 1 WorldCat member library worldwide

We report on a family with LEOPARD syndrome which was molecularly proven (p. Thr468Met in PTPN11) in a father and his adult son. The father had multiplelentigines dispersed equally over his body; the son was similarly affected except for the left part of thorax, back and left arm, which were completely devoid of lentigines and only showed a few nevi. In addition, the son was found to have a mosaic karyotype, 47,XYY/46,XY, in lymphocytes. Skin biopsies from the pigmented and unpigmented forearm showed that mainly a 47,XYY karyotype was present in the pigmented skin and mainly a 46,XY karyotype in the unpigmented skin. In both fibroblast cultures the PTPN11 mutation was present, and no additional mutation could be detected. We discussthe various possible explanations for this phenotype, which include thepossibility of coincidence; revertant mosaicism; silencing of a second PTPN11 mutation; gene(s) located on a sex chromosome influencing the phenotype; and epigenetic influences. We favor that the co-occurrence of a sexchromosome mosaicism and mosaicism for skin symptoms in a single patient with LEOPARD syndrome is coincidence, but that mosaicism for LEOPARD skin symptoms in itself may well be more frequent and needs additional studies. Each of the above-hypothesized mechanisms may then remain possible
Syndromes of the head and neck;Gorlin's syndromes of the head and neck by Raoul C. M Hennekam( Book )

1 edition published in 2010 in Undetermined and held by 1 WorldCat member library worldwide

Immunological abnormalities in CHARGE syndrome( )

1 edition published in 2007 in English and held by 1 WorldCat member library worldwide

Immune deficiency can be part of CHARGE syndrome but often receives only limited attention. We present two patients with CHARGE syndrome confirmed CHD7mutations who had severe T-cell deficiency, and review 15 CHARGE patientsfrom the literature with immunological problems. Most of them had severe T-cell deficiency, although the spectrum also included mild T-cell deficiency and isolated humoral immune deficiency. We conclude that immunodeficiency can form an important symptom in CHARGE syndrome although thefrequency and exact nature are still insufficiently known. We propose to evaluate immune functions in all CHARGE syndrome patients, to estimate the frequency and nature of the accompanying immunodeficiency, and to obtain better data regarding prognosis and management
Het Rubinstein-Taybi Syndroom : informatie voor ouders en betrokkenen na de diagnose RTS by Miranda Coehoorn( Book )

1 edition published in 2016 in Dutch and held by 1 WorldCat member library worldwide

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) syndrome in humans and mice( )

1 edition published in 2011 in English and held by 1 WorldCat member library worldwide

Genital anomalies in a patient with Treacher Collins syndrome( )

1 edition published in 2008 in English and held by 1 WorldCat member library worldwide

Syndromes of the head and neck by Robert J Gorlin( )

1 edition published in 2001 in English and held by 0 WorldCat member libraries worldwide

 
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Audience level: 0.67 (from 0.63 for Gorlin's s ... to 1.00 for Syndromes ...)

Syndromes of the head and neck
Covers
Gorlin's syndromes of the head and neckSyndromes of the head and neck;Gorlin's syndromes of the head and neck
Alternative Names
Hennekam, Raoul Christiaan Maria

Hennekam, Raoul Christiaan Maria 1954-

Languages
English (40)

Dutch (6)