B. Hamel

发表

H. Ropers, B. Hamel, 2005, Nature Reviews Genetics.

Auditory change detection in fragile X syndrome males: A brain potential study

K. R. Ridderinkhof, G. Ramakers, M. V. D. Molen, 2012, Clinical Neurophysiology.

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome

N. de Leeuw, B. D. de Vries, J. Veltman, 2006, American journal of medical genetics. Part A.

The fragile X‐associated tremor ataxia syndrome (FXTAS) in Indonesia

R. Hagerman, A. Ediati, B. Hamel, 2013, Clinical genetics.

Strategies for present and future mental retardation diagnosis

H. Bokhoven, B. Hamel, A. Brouwer, 2006 .

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

R. Pfundt, L. Vallée, M. Holder-Espinasse, 2011, Journal of Medical Genetics.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Profiling Fragile X Syndrome in males: strengths and weaknesses in cognitive abilities.

K. R. Ridderinkhof, G. Ramakers, M. W. van der Molen, 2010, Research in developmental disabilities.

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

B. D. de Vries, H. Stroink, T. Kleefstra, 2005, Clinical genetics.

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

A. Kuijpers-Jagtman, E. Bongers, D. Smeets, 2003, Clinical genetics.

A gene for nonsyndromic X‐linked mental retardation (MRX77) maps to Xq12‐Xq21.33

H. Bokhoven, C. Sismani, J. Chelly, 2003, American journal of medical genetics. Part A.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

H. Brunner, H. van Bokhoven, B. Hamel, 2002, American journal of medical genetics.

CHAPTER 2 * HQRW \ SH SKHQRW \ SH FRUUHODWLRQ LQ SDWLHQWV VXVSHFWHG RI KDYLQJ 6 RWRV V \ QGURPH

S. Cessie, R. Hennekam, J. Wit, 2006 .

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

J. Fryns, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Rubinstein-Taybi Syndrome Caused by Submicroscopic Deletions within 16p 1 3.3

H. Himmelbauer, R. Hennekam, Y. Kuroki, 2006 .

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

H. Ropers, H. Bokhoven, J. Fryns, 2000, Nature Genetics.

Aplasia cutis congenita and associated disorders: an update

B. Hamel, P. Steijlen, Mirjam Evers, 1995, Clinical genetics.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

B. V. van Bon, L. Vissers, B. D. de Vries, 2012, Journal of Medical Genetics.

A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

A. Smits, A. Kooper, B. Hamel, 2010, Genetic counseling.

Seroprevalence and Associated Risk Factors of HBV Co-infection Among HIV Infected Children Enrolled into Care at Kilimanjaro Christian Medical Centre, Tanzania

B. Hamel, B. Mmbaga, Ann M. Buchanan, 2015 .

Arts syndrome is caused by loss-of-function mutations in PRPS1.

M. Egmont-Petersen, S. Nabuurs, A. V. van Kuilenburg, 2007, American journal of human genetics.

Auditory and visual cortical activity during selective attention in fragile X syndrome: A cascade of processing deficiencies

K. R. Ridderinkhof, G. Ramakers, M. V. D. Molen, 2012, Clinical Neurophysiology.

Adult Phenotypes in Angelman- and Rett-Like Syndromes

T. Kleefstra, B. Hamel, M. Willemsen, 2012, Molecular Syndromology.

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

F. Baas, B. Hamel, P. Barth, 1994, Neuromuscular Disorders.

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.

F. Gabreëls, B. Hamel, C. V. van Ravenswaaij, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetics of X-Linked Mental Retardation

J. Chelly, B. Hamel, 2003 .

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

R. Pfundt, E. Bongers, H. van Bokhoven, 2009, American journal of medical genetics. Part A.

Renpenning syndrome comes into focus

R. Stevenson, C. Schwartz, H. Lubs, 2005, American journal of medical genetics. Part A.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

R. Pfundt, J. Gécz, M. Stratton, 2010, American journal of medical genetics. Part A.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia.

E. Bongers, C. Woods, H. van Bokhoven, 2002, American journal of medical genetics.

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

B. D. de Vries, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

P. Wesseling, H. Kremer, H. Ropers, 1999, Journal of medical genetics.

Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

C. Cremers, B. Hamel, F. Hol, 1998, Human mutation.

Attentional set-shifting in fragile X syndrome

G. Ramakers, M. V. D. Molen, B. Hamel, 2012, Brain and Cognition.

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

K. Méhes, B. Hamel, B. Hamel, 1995, Human molecular genetics.

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

M. Bamshad, R. Tenconi, H. Brunner, 2001, American journal of human genetics.

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

R. Hennekam, B. Hamel, B. Hamel, 1989, American journal of medical genetics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Fryns, T. Kleefstra, 2010, Molecular Psychiatry.

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

E. Mariman, H. Kremer, H. Ropers, 1999, American journal of medical genetics.

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

T. Wienker, E. Mariman, H. Brunner, 1999, American journal of human genetics.

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

H. Kremer, B. Hamel, H. Kremer, 1999, American journal of human genetics.

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.

J. Leunissen, H. Kremer, B. Hamel, 1996, Human molecular genetics.

Down-Turner syndrome: case report and review.

G. Buggenhout, D. Smeets, B. Hamel, 1994, Journal of Medical Genetics.

Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion?

H. T. ten Donkelaar, P. Wesseling, B. Hamel, 2002, Clinical dysmorphology.

X‐linked mental retardation: further lumping, splitting and emerging phenotypes

T. Kleefstra, B. Hamel, B. Hamel, 2005, Clinical genetics.

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

J. L. Yntema, B. Hamel, B. Hamel, 2009, European Journal of Pediatrics.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

B. Hamel, B. Hamel, N. Jaspers, 1996 .

Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia.

A. Kuijpers-Jagtman, H. Blom, Christopher M Thomas, 1999, Teratology.

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

B. Cormand, W. Dobyns, H. van Bokhoven, 2003, Journal of medical genetics.

Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida.

E. Mariman, J. Attwood, J. Burn, 1996, Human molecular genetics.

X-linked mental retardation

H. Ropers, G. Neri, B. Hamel, 2005, Nature Reviews Genetics.

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

H. Brunner, F. Cremers, H. Ropers, 1999, Genomics.

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

H. Brunner, F. McKeon, J. McGrath, 2001, Human molecular genetics.

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome

C. Bönnemann, B. V. van Engelen, B. Hamel, 2009, American journal of medical genetics. Part A.

Recurrent and founder mutations in the Netherlands

G. Pals, B. Mulder, B. Hamel, 2010 .

Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

B. Engelen, C. Bönnemann, B. Hamel, 2009, Journal of Neurology.

Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients

B. Engelen, B. Engelen, B. Hamel, 2007, Neuromuscular Disorders.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

J. Gécz, J. Hettema, J. Fryns, 2010, Molecular Psychiatry.