Hennekam, Raoul C M: search on Z-Library

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1

Elements of morphology: Standard terminology for the external genitalia

Hennekam, Raoul C.M., Allanson, Judith E., Biesecker, Leslie G., Carey, John C., Opitz, John M., Vilain, Eric

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 5.77 MB

english, 2013

2

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

de Winter, Channa F., Baas, Melanie, Bijlsma, Emilia K., van Heukelingen, John, Routledge, Sue, Hennekam, Raoul C. M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 963 KB

english, 2016

3

Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study

Heval Ozgen, Gerhard S. Hellemann, Rebecca K. Stellato, Bertine Lahuis, Emma van Daalen, Wouter G. Staal, Marije Rozendal, Raoul C. Hennekam, Frits A. Beemer, Herman van Engeland

Journal:

Journal of Autism and Developmental Disorders

Year:

2011

Language:

english

File:

PDF, 253 KB

english, 2011

4

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

Carlo Bellini, Raoul CM Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 431 KB

english, 2012

5

Progress toward Understanding Vascular Malformations

Breugem, Corstiaan C., van der Horst, Chantal M. A. M., Hennekam, Raoul C. M.

Journal:

Plastic & Reconstructive Surgery

Year:

2001

File:

PDF, 13.88 MB

2001

6

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias

Oostra, Roelof-Jan, Baljet, Bob, Dijkstra, Piet F., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.86 MB

english, 1998

7

Revised diagnostic criteria for the Marfan syndrome

De Paepe, Anne, Devereux, Richard B., Dietz, Harry C., Hennekam, Raoul C. M., Pyeritz, Reed E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 955 KB

english, 1996

8

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 356 KB

english, 2012

9

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 654 KB

english, 2017

10

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

Postema, Floor A.M., Hopman, Saskia M.J., Hennekam, Raoul C., Merks, Johannes H.M.

Journal:

Pediatric Blood & Cancer

Year:

2017

Language:

english

File:

PDF, 245 KB

english, 2017

11

Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome

Grétel G. Oudesluijs, Roel Hordijk, Maartje Boon, Paul E. Sijens, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 202 KB

english, 2005

12

The Peters’ plus syndrome: a review

Liesbeth J.J.M. Maillette de Buy Wenniger-Prick, Raoul C.M. Hennekam

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 435 KB

english, 2002

13

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

vandenBerg, JanS.P., Hennekam, Raoul C.M., Cruysberg, Jan R.M., Steijlen, Peter M., Swart, Jaap, Tijmes, Nel, Limburg, Martien

Journal:

Cerebrovascular Diseases

Year:

2000

Language:

english

File:

PDF, 172 KB

english, 2000

14

Health-related quality of life in children with Robin sequence

Basart, Hanneke, van Oers, Hedy A., Paes, Emma C., Breugem, Corstiaan C., Don Griot, J. Peter W., van der Horst, Chantal M. A. M., Haverman, Lotte, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 110 KB

english, 2017

15

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

De Maria, Beatrice, Mazzanti, Laura, Roche, Nathalie, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.73 MB

english, 2016

16

Growth charts for children with Ellis–van Creveld syndrome

Sabine Verbeek, Paul H. C. Eilers, Kate Lawrence, Raoul C. M. Hennekam, Florens G. A. Versteegh

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 275 KB

english, 2011

17

Growth charts for individuals with Rubinstein-Taybi syndrome

Beets, Lex, Rodríguez-Fonseca, Cristina, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.50 MB

english, 2014

18

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Jacopo Celli, Ellen van Beusekom, Raoul C.M. Hennekam, M. Esther Gallardo, Dominique F.C.M. Smeets, Santiago Rodríguez de Córdoba, Jeffrey W. Innis, Moshe Frydman, Rainer König, Helen Kingston, John T

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.03 MB

english, 2000

19

Laminopathies: clinical presentations and management

Raoul CM Hennekam

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

20

Mutational spectrum of Smith-Lemli-Opitz syndrome

Waterham, Hans R., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 330 KB

english, 2012

21

Malformations of the axial skeleton in the museum Vrolik: II: Craniosynostoses and suture-related conditions

Roelof-Jan Oostra, Sander van der Wolk, Mario Maas, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 808 KB

english, 2005

22

Growth failure in adolescents: etiology, the role of pubertal timing and most useful criteria for diagnostic workup

Stalman, Susanne E., Hellinga, Ilse, Wit, Jan M., Hennekam, Raoul C.M., Kamp, Gerdine A., Plötz, Frans B.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

23

Genetic Survey of a Group of Children with Clefting: Implications for Genetic Counseling

Hofstee, Yvonne, Kors, Nico, Hennekam, Raoul C. M.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1993

File:

PDF, 261 KB

1993

24

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Niihori, Tetsuya, Aoki, Yoko, Narumi, Yoko, Neri, Giovanni, Cavé, Hélène, Verloes, Alain, Okamoto, Nobuhiko, Hennekam, Raoul C M, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

25

Very rare disorders -organisation of care

Raoul CM Hennekam

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

26

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.67 MB

english, 2018

27

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisma

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

28

Brain Tumors and Syndromes in Children

Bleeker, Fonnet, Hopman, Saskia, Merks, Johannes, Aalfs, Cora, Hennekam, Raoul

Journal:

Neuropediatrics

Year:

2014

Language:

english

File:

PDF, 761 KB

english, 2014

29

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

Zwaveling-Soonawala, Nitash, Alders, Marielle, Jongejan, Aldo, Kovačič, Lidija, Duijkers, Floor A, Maas, Saskia M, Fliers, Eric, van Trotsenburg, A S Paul, Hennekam, Raoul C

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 951 KB

english, 2018

30

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

Henneman, Peter, Petrus, Nicole C. M., Venema, Andrea, van Sinderen, Femke, van der Lip, Karin, Hennekam, Raoul C., Mannens, Marcel, Sprikkelman, Aline B.

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

31

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions

John C. Carey, Judith E. Allanson, Raoul C.M. Hennekam, Leslie G. Biesecker

Journal:

Year:

2012

Language:

english

File:

PDF, 410 KB

english, 2012

32

Focal dermal hypoplasia without focal dermal hypoplasia

Contreras-Capetillo, Silvina N., Lombardi, Maria Paola, Pinto-Escalante, Doris, Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 594 KB

english, 2014

33

Co-occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Robert Smigiel, Aleksandra Jakubiak, Maria Paola Lombardi, Wojciech Jaworski, Ryszard Slezak, Dariusz Patkowski, Raoul C. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

34

Phenotype and genotype in Nicolaides-Baraitser syndrome

Sousa, Sérgio B., Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.44 MB

english, 2014

35

Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

Dagmar Wieczorek, Oliver Bartsch, Stanislav Lechno, Jürgen Kohlhase, Dorien J.M. Peters, Hans Dauwerse, Gabriele Gillessen-Kaesbach, Raoul C.M. Hennekam, Eberhard Passarge

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 213 KB

english, 2009

36

European lipodystrophy registry: background and structure

von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, DâApice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C. M., Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.66 MB

2020

37

Further delineation of the chromosome 14q terminal deletion syndrome

Clara D.M. van Karnebeek, Safira Quik, Sigrid Sluijter, Miriam M.F. Hulsbeek, Jan M.N. Hoovers, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

38

Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene

Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M. Berg, Amanda L. Ferguson, Raoul Hennekam, Saul Merin, Richard G. Weleber, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.05 MB

english, 2005

39

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

Maas, Saskia M., Vansenne, Fleur, Kadouch, Daniel J. M., Ibrahim, Abdulla, Bliek, Jet, Hopman, Saskia, Mannens, Marcel M., Merks, Johannes H. M., Maher, Eamonn R., Hennekam, Raoul C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 433 KB

english, 2016

40

Rett syndrome: A study of the face

Judith E. Allanson, Raoul C.M. Hennekam, Ute Moog, Eric E. Smeets

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 915 KB

english, 2011

41

Testicular cancer in a patient with Primrose syndrome

Inge B. Mathijssen, Jos van Hasselt-van der Velde, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

42

Intellectual Disability and Hemizygous GPD 2 Mutation

Barge-Schaapveld, Daniela Q.C.M., Ofman, Rob, Knegt, Alida C., Alders, Mariëlle, Höhne, Wolfgang, Kemp, Stephan, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.44 MB

english, 2013

43

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies

Oostra, Roelof-Jan, Baljet, Bob, Dijkstra, Piet F., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.61 MB

english, 1998

44

Elements of morphology: Standard terminology for the nose and philtrum

Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton, Roger E. Stevenson

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 885 KB

english, 2009

45

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

Basart, Hanneke, Kruisinga, Frea H., Breugem, Corstiaan C., Don Griot, J. Peter W., Hennekam, Raoul C., Van der Horst, Chantal M.A.M.

Journal:

Journal of Cranio-Maxillofacial Surgery

Year:

2015

Language:

english

File:

PDF, 230 KB

english, 2015

46

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

Petrus, Nicole C. M., Henneman, Peter, Venema, Andrea, Mul, Adri, van Sinderen, Femke, Haagmans, Martin, Mook, Olaf, Hennekam, Raoul C., Sprikkelman, Aline B., Mannens, Marcel

Journal:

Clinical and Translational Allergy

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

47

Elements of morphology: Introduction

Judith E. Allanson, Leslie G. Biesecker, John C. Carey, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 152 KB

english, 2009

48

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. iii: primary field defects, sequences, and other complex anomalies

Oostra, Roelof-Jan, Baljet, Bob, Verbeeten, Ben W.J.M., Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

49

Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome

Raoul C. M. Hennekam, Marie-Jose Van Den Boogaard, Piet F. Dijkstra, Jacques J. P. Van de Kamp

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 274 KB

english, 1990

50

What to call a syndrome

Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 87 KB

english, 2007

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