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PWS Publications of the Grant Holders


Tony Holland

Goldstone, A.P., Thomas, E.L., Brynes, A.E., Bell, J.D., Frost, G., Saeed, N.,Hajnal, J.V., Howard, J.K., Holland, A.J., and Bloom, S.R. (2001)
Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi Syndrome female adults: Evidence for novel influences on body fat distribution. 

Journal of Clinical Endocrinology and Metabolism 86 (9): 4330-38.

Whittington, J.E., Holland, A.J., Webb, T., Butler, J., Clarke, D., and Boer. H. (2001)

Population prevalence and estimated birth incidence and mortality rate for people with Prader Willi Syndrome in one health district. Journal of Medical Genetics, 38:792-798.

Boer, H., Holland, A.J., Whittington, J., Butler, J., Webb, T. and Clarke, D. (2002)

Psychotic illness in people with Prader Willi Syndrome due to chromosome 15 maternal uniparental disomy The Lancet, 359: 135-136.

Clarke, D.C., Boer, H., Whittington, J.E., Holland, A.J., Butler, J.V. and Webb, T. (2002)

Prader-Willi Syndrome, compulsive and ritualistic behaviours: The first population-based survey. British Journal of Psychiatry, 180: 358-362.

Butler, J., Whittington, J.E., Holland, A.J., Webb, T., Clarke, D., and Boer. H. (2002)

Medical conditions in Prader Willi Syndrome. Developmental Medicine and Child Neurology 44:248-255.

Goldstone, A.P., Brynes, A.E., Thomas, E.L., Bell, J.D., Frost, G., Holland, A.J., Ghatei, M.A., Bloom, S.R. (2002)

Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome. American Journal of Clinical Nutrition 75: 468-475.

Ikeda, M., Brown, J., Holland, A.J., Fukuhara, R. and Hodges, J.(2002)

Changes in appetite, food preference and eating habits in frontotemporal dementia and Alzheimer disease. Journal of Neurology, Neurosurgery and Psychiatry 73, 371-376

Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V., Clarke, D.J. and Boer, H. (2002)

Relationship between clinical and genetic diagnosis of Prader-Willi Syndrome. Journal of Medical Genetics.39, 926-932

Webb, T., Whittington, J.E., Clarke, D., Boer, H., Butler, J. and Holland, A.J. (2002)

A study of the influence of different genotypes on the physical and behavioural phenotypes of children and adults. Clinical Genetics 62, 273-281.

Goldstone, A.P., Brynes, A.E., Thomas, E.L., Bell, J.D., Frost, G., Holland, A. and Bloom, S. (2003)

 Body composition using whole body magnetic resonance imaging an resting metabolic rate in Prader-Willi Syndrome adults. Journal of Clinical Endocrinology and Metabolism.

Holland, A.J., Whittington, J.E. Butler, J., Webb, T., Boer, H and Clarke, D.J. (2003)

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi Syndrome. Psychological Medicine, 33, 141-153

Holland, A., Whittington, J., Hinton, E. (2003)

 The paradox of Prader-Willi syndrome: a genetic model of starvation. The Lancet, 362, 989-991

Arana FS, Parkinson JA, Hinton E, Holland AJ, Owen AM, Roberts AC. (2003)

Dissociable contributions of the human amygdala and orbitofrontal cortex to incentive motivation and goal selection. Journal of Neuroscience; 23(29):9632-8.

Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V. Clarke, D.J. and Boer, H. (2004)

Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. Journal of Intellectual Disability Research 48: 172-187

Whittington, J.E., Holland, A.J., Webb, T., Butler, J.V. Clarke, D.J. and Boer, H. (2004)

Underachievement in Prader Willi Syndrome. Journal of Intellectual Disability Research 48: 188-200

Goldstone, A.P., Thomas, E.L., Brynes, A.E., Castroman, G., Edwards, R., Ghatei, M.A., Frost, G., Holland, A.J., Grossman, A.B., Korbonits, M., Bloom, S.R., Bell, J.D. (2004)

Elevated fasting plasma ghrelin in Prader-Willi syndrome adults is not solely explained by their reduced visceral adiposity and insulin resistance. Journal of Clinical Endocrinology and Metabolism 89(4):1718-1726

Hinton, E.C, Parkinson, J.A, Holland, A.J., Arana, F.S., Roberts, A.C., Owen, A.M. (2004)

 Neural contributions to the motivational control of appetite in humans. European Journal of Neuroscience 20(5):1411-8, March

Whittington, J.E. & Holland, A.J. Eds. (2004)

Prader-Willi Syndrome: Development and Manifestations. Cambridge University Press. ISBN 0 521 84029.

Isles, A., and Holland, A.J. (2005)

 Imprinted genes and mother-offspring interactions. Early Human Development  81, 73-77

Webb, T., Whittington, J., Holland, A.J., Soni, S., Boer, H., Clarke, D., Horsthemke, B. (2006)

CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome. Clinical Genetics   69:  26-32

Hinton, E.C., Holland, A.J., Gellatly, M.S.N., Soni, S., Ghatei, M.A. and Owen, A.M. (2006)

Neural Representations of hunger and satiety in Prader-Willi syndrome. International Journal of Obesity, 30, 313-321

Hinton E.C., Holland A.J., Gellatly, M.S.N., Soni, S. & Owen, A.M. (2006)

An investigation into food preferences and the neural basis of food-related incentive motivation in Prader–Willi syndrome. Journal of Intellectual Disability Research

Maina, E.N., Webb, T., Soni, S. Whittington, J.,Boer, H., Clarke, D. and Holland, A.J. (2007)

Analysis of candidate imprinted genes in PWS subjects with atypical genetics:  a possible inactivating mutation in the SNURF/SNRPN minimal promoter. Journal of Human Genetics 52:4 297-307

Whittington, J., Butler, J. V., Holland, A. H. (2007)
Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. European Journal of  Human Genetics, 15, 127-130

Soni, S., Whittington, J., Holland, A.J., Webb, T., Maina, E.N., Boer, H. & Clarke, D. (2007)

The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. Journal of Intellectual Disability Research 

Webb, T. Maina E. N. Soni, S. Whittington, J.E. Boer. H. Clarke, D. & Holland, A.J. (2008) 

In search of the psychosis gene in people with Prader-Willi syndrome. American Journal of Medical Genetics

Soni, S., Whittington, J., Holland, A.J., Webb, T., Maina, E.N., Boer, H. & Clarke, D. (2008)

The phenomenology and diagnosis of psychiatric illness in peoplewith Prader-Willi syndrome.  Psychological Medicine 10, 1505-14

Whittington, J.E, Butler, J.V, Holland, A.J (2008)

Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample. Early Human Development  5, 331-6

Whittington, J.E, Holland, A.J, Webb, T (in press)

Relationship between the IQ of people with Prader-Willi syndrome and that of their siblings: evidence for imprinted gene effects. Journal of Intellectual Disability Research

Holland, A.J, Whittington, J.E, Cohen, O, Curfs, L, Delahaye, F, Dudley, O, Horsthemke, B, Lindgren, A.C, Nourissier, C, Sharma, N, Vogels, A (in press) The european Prader-Willi Syndrome Clinical Research Database: an aid in the investigation of a rare genetically-determined neurodevelopmental disorder. Journal of Intellectual Disability Research  

 

 

 

Mike Fainzilber

Tcherpakov, M., Bronfman, F.C., Vaskovsky, A., Conticello, S.G., Levy, Z., Niinobe, M., Yoshikawa, K., Arenas, E.,  & Fainzilber, M., (2002) The p75 neurotrophin receptor interacts with multiple MAGE proteins. Journal of Biological Chemistry 277, 49101-49104.

Bronfman, F.C., Tcherpakov, M., Jovin, T.M., & Fainzilber. M. (2003) Ligand-induced internalization of the p75 neurotrophin receptor: a slow route to the signaling endosome. Journal of Neuroscience 23, 3209-3220.
Bronfman, F.C. & Fainzilber, M.,
(2004)  Multi-tasking by the p75 receptor: sortilin things out? EMBO Reports5, 867-871. 

 

Bernhard Horsthemke

Bielinska B*, Blaydes SM*, Buiting K*, Yang T, Krajewska-Walasek M,
Horsthemke B**, Brannan CI
(2000)
De novo deletions of the SNRPN exon 1 region in early human and mouse embryos result in a paternal to maternal imprint switch.  Nature Genetics 25:74-78

Färber C, Groß S, Neesen J, Buiting K, Horsthemke B
(2000)
Identification of a testis specific gene (C15orf2) in the Prader-Willi syndrome region on  chromosome 15. Genomics 65:174-183

Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson ME, Lich C,
B. Horsthemke
(2000) Imprinting center deletions in two PWS families: Implications for diagnostic testing and genetic counseling. Clinical Genetics 58:284-290

Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan C, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A
(2000) Identification of imprinted, tissue-specific C/D box small nucleolar RNA genes in the Prader-Willi syndrome region. Proc Natl Acad Sci USA, 97:14311-14316

Wirth J, Back E, Hüttenhofer A, Nothwang HG, Lich C, Groß S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers HH, Horsthemke B, Buiting K
(2001)
A translocation breakpoint cluster disrupts the newly defined 3’ end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics, 10:201-210

El-Maarri O, Buiting K, Peery EG, Kroisel PM, Balaban B, Wagner K, Urman B, Brannan CI, Walter J, Horsthemke B.
(2001) Maternal methylation imprints on human chromosome 15 are established around or after fertilisation. Nature Genetics 27:341-344

Runte M, Färber C, Lich C, Zeschnigk M, Bucholz T, Smith A, van der Maldergem L. Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K
(2001)
A comprehensive methylation analysis of PWS and AS patients with normal biparental chromosomes 15. European Journal of  Human Genetics, 9:519-526

Runte M, Hüttenhofer A, Groß S, Kiefmann M, Horsthemke B, Buiting K
(2001)
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Human Molecular Genetics, 10:2687-2700

Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B. 
(2003)
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.  American Journal of Human Genetics. 72:571-7.

Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpaß L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K
(2003)
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Human Molecular Genetics, 20:2723-2732

Horsthemke B
(2003)
Prader-Willi and Angelman syndrome. Encyclopedia of the Human Genome. Nature

Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A
(2005)
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of  Human Genetics, 13:278-282

Runte M, Varon R, Horn D, Horsthemke B, Buiting K.
(2005)
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Human Genetics, 116:228-230

Horsthemke B, Buiting K
(2005)
Imprinting in Prader-Willi and Angelman syndromes. In Jorde LB, Little PFR, Dunn MJ, Subramaniam S (Eds), Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics.  John Wiley & Sons Ltd: Chichester, vol 1, pp.245-258.

Horsthemke B
(2006)
Prader-Willi and Angelman syndromes. Encyclopedic Reference of Genomics and Proteomics in Molecular medicine. Springer Verlag.

Webb T, Whittington J, Holland AJ, Soni S, Boer H, Clarke D, Horsthemke B
(2006)
CD36 expression: relationship with obesity in those with and without Prader-Willi syndrome. Clinical Genetics 69:26-32

 

Horsthemke B, Buiting K (2006)
Imprinting defects on human chromosome 15. Cytogenetic Genome Research, 113: 292-299

Buiting K, Horsthemke B
(2006)
Molecular findings in Prader-Willi syndrome. In Managment in Prader-Willi syndrome (eds. Butler MG, Lee PDK, Whitman) 3rd edition, Springer Verlag New York , pp49-73


Horsthemke B
(2006)
Epimutations in human disease. Curr Top Microbiol Immunol, 310:45-5

Zogel C, Böhringer S, Groß S, Varon R, Buiting K, Horsthemke B
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.  European Journal of Human Genetics, 14:752-8. 
 

Buiting K, Nazlican H, Galetzka D, Wawrzik M, Grobeta S, Horsthemke B(2007) 

C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics89:588-595 

Teller K, Solovei I, Buiting K, Horsthemke B, Cremer T (2007)

Maintenance of imprinting and nuclear architecture in cycling cells. Proc Natl Acad Sci 104:14970-14975 
 

Horsthemke B (2007)

Rhythm is not enough. Nat Genet 39:1190-1191
 

Rauch J, Knoch TA, Solovei I, Teller K, Stein S, Buiting K, Horsthemke B, Langowski J, Cremer T, Hausmann M Cremer C (2008)
Lightoptical precision measurements of the architecture of the Prader-Willi Syndrome imprinting locus in human cell nuclei indicate maximum  chromatin condensation changes in the few hundred nanometer range. Differentiation, 76:66-82

Horsthemke B, Wagstaff J (2008)

Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet, 146:2041-2052 

Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K (2008)

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet, Epub ahead of press  

 

Francoise Muscatelli

 

Zanella S., Tauber M. and Muscatelli F. (2009).

Breathing deficits of the Prader-Willi Syndrome. Respiratory Physiology and Neurobiology. In Press. 

David Andrieu, Rachel Sturny,Corinne Angelats,  Pierre-Alain Fernandez  and Françoise Muscatelli.
Lack of Necdin results in defects in central and peripheral nervous system development. Submitted for publication

Mathieu Bertrand, David Andrieu, Michèle Leclercq-Smekens, Sophie Lucas, Françoise Muscatelli and Olivier De Backer. 
Disruption of Maged1 in mice leads to decreased aoptosis in the developing nervous system and delayed apoptosis-driven hair follicle regression. Submitted for publication

 Zanella, S., Barthelemy, M., Muscatelli, F., and Hilaire, G. (2008a).Necdin gene, respiratory disturbances and Prader-Willi syndrome. Adv Exp Med Biol 605, 159-164.Dudley, O., McManus, B., Vogels, A., Whittington, J. & Muscatelli, F. (2008) Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 52, 426-36

Sebastien Zanella, Françoise Watrin, Saïda Merabek, Fabienne Marly  Michel Roussel, Catherine Gire, Gwenaëlle Diène, Maïté Tauber, Gérard Hilaire,* and Françoise Muscatelli.* (2008)  FM and GH have equally participated to this work. Necdin plays a role in the Serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome. Journal of NeuroscienceFeb 13; 28(7):1745-1755 

 Dudley, O., McManus, B., Vogels, A., Whittington, J. & Muscatelli, F. (2008)Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 2008 52, 426-36.

 Bertrand, MJM, Kenchappa, RS, Andrieu, D, Leclercq-Smekens, M, Nguyen, HNT, Carter,BD, Muscatelli, F, Barker, PA and De Backer, O. In Press. NRAGE,  p75NTR adaptator protein, is required for developmental apoptosis in vivo. Cell death and Differentiation. 2008. 15 (12) : 1921-9. 

Daniela Deponti, Silvia Baesso, Stéphanie François, Clara Sciorati, Vania Broccoli, Françoise Muscatelli, Raffaella Meneveri, Emilio Clementi, Giulio Cossu and Silvia Brunelli (2007) Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation.
Journal of Cell Biology Oct 22;179(2):305-19.

David Andrieu, Hamid Meziane, Fabienne Marly, Corinne Angelats, Pierre-Alain Fernandez  and Françoise Muscatelli (2006)  Sensory defects in Necdin deficient mice result from a loss of sensory neurons correlated within an increase of developmental programmed cell death. BMC Developmental Biology. Nov 20;6:56.  

Oenone Dudley, F Muscatelli (2006)  Clinical evidence of intrauterine disturbance in Prader Willi Syndrome, a genetically imprinted neurodevelopmental disorder. Early Human Development. Oct.17   
 

Le Meur, E., F. Watrin, M. Landers, R. Sturny, M. Lalande, and F. Muscatelli. (2005)
Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region.Developmental  Biology 286:587-600.

 Watrin, F., E. Le Meur, N. Roeckel, M. A. Ripoche, L. Dandolo, and F. Muscatelli.
(2005)
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene. BMC Genetics 6:1.

 Vitali, P., E. Basyuk, E. Le Meur, E. Bertrand, F. Muscatelli, J. Cavaille, and A. Huttenhofer.
(2005)
ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. Journal of  Cellular Biology 169:745-53

 Miguel Landers, Daria Bancescu, Elodie Le Meur, Claire Rougeulle, Heather Glatt-Deeley, Camilynn Brannan, Françoise Muscatelli, and Marc Lalande.
(2004)
Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn, Nucleic Acids Research, 32, 3480

David Andrieu,  Françoise Watrin., Michio Niinobe, Kasuaki Yoshikawa, Françoise Muscatelli and Pierre Alain Fernandez, P.A.
(2003)
Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression, Mechanisms of Development: Gene Expr Patterns, 3, 761

Maren Runte, Claudia Färber, Christina Lich, Michael Zeschnigk, Tina Buchholz, Arabella Smith, Lionel Van Maldergem, Joachim Bürger, FranVoise Muscatelli, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Karin Buiting. (2001) Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15. European Journal of Human Genetics.9(7) : 519-526.


 Françoise Muscatelli, Djoher Nora Abrous, Annick Massacrier, Irène Boccaccio, Michel Le Moal, Pierrre Cau, Harold Cremer.
(2000).
Disruption of the mouse necdin gene results in hypothalamic and behavioral alterations reminiscent of the human prader-willi syndrome. Human Molecular Genetics 9(20): 3101-3110.

Irène Boccaccio, Heather Glatt-Deeley, Françoise Watrin, Nathalie Roëckel, Marc Lalande and Françoise Muscatelli. (1999).

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Human Molecular genetics. Vol. 8, No. 13: 2497-2505.  

    Philippe Jay, Claire Rougeulle, Annick Massacrier, Anne Moncla, Marie-Geneviève Mattei, Perrine Malzac, Nathalie Roëckel, Sylvie Taviaux, Jean-Louis Bergé Lefranc Pierre Cau, Philippe Berta, Marc Lalande and Françoise Muscatelli. (1997) Human NECDIN is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genetics.; 17(3): 357-361. 

Françoise Watrin, Nathalie Roëckel, Laurence Lacroix, Cécile Mignon, Marie-Geneviève Mattei, Christine Disteche & Françoise Muscatelli. (1997) The mouse Necdin gene is maternally imprinted and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. European Journal of Human Genetics.; 5(5): 324-332. 

Lurquin C, De Smet C, Brasseur F, Muscatelli F, Martelange V, De Plaen E,Brasseur R, Monaco AP, Boon T. (1997)Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins. Genomics;46(3):397-408. 

Walker, A.P., Muscatelli, F., Stafford, A.P., Chelly,J., Dahl,N., K:son Blomquist,H., Delanghe,J., Willems,P.J., Steinmann,B. and Monaco, A.P. (1995).

Mutations and phenotype in isolated glycerol kinase deficiency. Am. J. Hum. Genet. 58 (6), 1205-1211. 

Muscatelli, F., Walker, A.P., De Plaen, E., and Monaco, A.P. (1995).

Isolation and characterisation of a MAGE-like gene in the Xp21-3 region. Proc. Nat. Acad. Sci. 92, 4987-4991. 


 

 

Dick Swaab

Swaab, D.F., B. Roozendaal, R. Ravid, D.N. Velis, L. Gooren and R. Williams (1987)
Suprachiasmatic nucleus in aging, Alzheimer's disease, transsexuality and Prader-Willi syndrome. In: Neuropeptides and Brain Function. E.R. de Kloet, V.M. Wiegant and D. de Wied (Eds.), Progress in Brain Research, Vol.72, , pp. 301-310,

Gabreëls, B.A.Th.F., D.F. Swaab, N.G. Seidah, J.L.P. Van Duijnhoven, G.J.M. Martens and F.W. Van Leeuwen
(1994)
Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients. Brain Research 657: 281-293,

Swaab, D.F., Purba, J.S. and Hofman, M.A.
(1995)
Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. Journal of Clinical Endocrinological Metabolism. 80(2): 573-579

Swaab, D.F.
(1997)  Prader-Willi syndrome and the hypothalamus. Acta Paediatr. Suppl. 423: 50-54

Gabreëls, B.A.Th.F., Swaab, D.F., de Kleijn, D.P.V., Seidah, N.G., Van de Loo, J.-W., Van de Ven, W.J.M., Martens, G.J.M. and van Leeuwen, F.W.
(1998)
Attenuation of the polypeptide 7B2, prohormone convertase PC2 and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect.  Journal of Clinical Endocrinological Metabolism 83: 591-599

Goldstone, A.P., Unmehopa, U.A., Bloom, S.R., Swaab, D.F.
Hypothalamic NPY and agouti-related protein are increased in human illness but not in Prader-Willi syndrome and other obese subjects.  Journal of Clinical Endocrinolgical Metabolism    87: 927-937.

Goldstone, A.P., Unmehopa, U.A., Swaab, D.F.
Hypothalamic growth hormone-releasing hormone (GHRH) cell number increased in human illness, but is not reduced in Prader-Willi syndrome obesity. Clinical Endocrinology 59: 266.

Fronczek, R., Lammers, G.J., Balesar, R., Unmehopa, U., Swaab, D.F.
The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome.   Journal of Clinical Endocrinolgical Metabolism    87: 927-937.
90: 5466-5470.

Annick Vogels

Vogels, A., Holvoet, M., Descheemaeker, M.J., Fryns, J.P., Devriendt, K. (2002)
Case report. Atypical presentation of the Prader-Willi syndrome. Mosaic Trisomy 15?
Ann. Génét., 45, 1-3,

Descheemaeker*, M.J.,  Vogels, A.*, Verhoeven, W., Govers, V., Borghgraef, M., Wllekens, D.,  Swillen, A., Fryns, J.P.
(*the first two authors contributed equally to this work)
Prader-Willi Syndrome: new insights in the behavioural and psychiatric spectrum.
Journal of Intellectual Disability Research. 46(Pt 1):41-50, 2002

Vogels, A., Fryns, J.P.
The Prader-Willi syndrome and the Angelman syndrome.
Genet. Couns., 13, 385-396, 2002.

Vogels, A., Matthijs, G., Legius, E., Devriendt, K., Fryns, J.P.
(2003)
Letter to the Editor. Chromosomal 15 maternal uniparental disomy and psychosis in Prader Willi syndrome.
J. Med. Genet., 40(1), 72-73

Vogels, A., Van den Ende, J., Keymolen, K., Mortier, G., Devriendt, K., Legius, E., Fryns, J.P.
(2004)
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
European Journal of  Human Genetics, 12(3), 238-240,

Vogels, A., De Hert, M. D Descheemaeker, M.J., Govers, V., Legius, E., Prinzie, P., Devriendt, K., Fryns, J.P.
(2004)
Psychotic disorders in Prader-Willi Syndrome.
Am. J. Med. Genet. A , 127A(3), 238-43,

Vogels, A., Fryns, J.P.
(2004)
Age at diagnosis, body mass index and physical morbidity in children and adults with the Prader-Willi Syndrome.
Genet. Couns, 15(4), 397-404


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