P. Debeer

发表

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).

K. Devriendt, H. Van Esch, W. V. D. Van de Ven, 2005, European journal of medical genetics.

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

W. V. D. Van de Ven, L. de Smet, W. Argraves, 2002, Journal of medical genetics.

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

T. de Ravel, K. Devriendt, J. Vermeesch, 2009, Journal of Medical Genetics.

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

H. Van Esch, J. Fryns, A. Garg, 2006, The Journal of clinical endocrinology and metabolism.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3′/4 synpolydactyly

W. V. D. Van de Ven, P. Debeer, R. Thoelen, 1998, Cytogenetic and Genome Research.

Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.

K. Devriendt, H. Van Esch, J. Fryns, 1999, American journal of human genetics.

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

T. de Ravel, K. Devriendt, J. Vermeesch, 2010, Journal of Medical Genetics.

An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.

F. Luyten, P. Tylzanowski, V. Zappavigna, 2012, Human molecular genetics.

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

H. Peeters, N. Niikawa, A. Bairoch, 2003, Human Genetics.

Chapter 89. Fibrous Dysplasia

L. Viernstein, F. Speleman, J. Vandesompele, 2008 .

Joining the fingers: A HOXD13 story

P. Tylzanowski, P. Debeer, N. Brison, 2014, Developmental dynamics : an official publication of the American Association of Anatomists.

Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

K. Devriendt, J. Fryns, P. Debeer, 2003, American journal of medical genetics. Part A.

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

P. Scambler, J. Fryns, C. Bacchelli, 2002, Journal of medical genetics.

Genes and orthopedics: from gene to clinic and vice versa.

W. V. D. Van de Ven, L. de Smet, G. Fabry, 2002, Acta orthopaedica Belgica.

Sporadic case of bilateral fusion of metacarpal 4 and 5

J. Fryns, P. Debeer, M. De Smedt, 2004, American journal of medical genetics. Part A.

Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11)

K. Devriendt, J. Fryns, R. Mols, 2002, Clinical genetics.

Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.

K. Devriendt, W. V. D. Van de Ven, J. Fryns, 1996, Genomics.

Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

H. Peeters, M. Kalff-Suske, K. Grzeschik, 2003, American journal of medical genetics. Part A.

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

K. Grzeschik, K. Devriendt, J. Fryns, 2007, Journal of children's orthopaedics.

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

K. Devriendt, J. Vermeesch, T. Voet, 2010, Journal of Medical Genetics.

Recurrent involvement of chromosomal region 6q21 in heterotaxy.

H. Peeters, K. Devriendt, H. Van Esch, 2001, American journal of medical genetics.

Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1

P. Debeer, 2004, Clinical genetics.

Limb skeletal malformations - what the HOX is going on?

P. Tylzanowski, P. Debeer, N. Brison, 2012, European journal of medical genetics.

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

K. Devriendt, W. V. D. Van de Ven, J. Fryns, 2005, American journal of medical genetics. Part A.

A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses

K. Devriendt, W. V. D. Van de Ven, J. Fryns, 2004, American journal of medical genetics. Part A.

A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.

P. Tylzanowski, V. Zappavigna, P. Debeer, 2008, Human molecular genetics.

Unilateral absence of the trapezius and pectoralis major muscle: a variant of Poland syndrome.

L. de Smet, P. Debeer, J. Fryns, 2002, Genetic counseling.

Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.

J. Fryns, L. de Smet, P. Debeer, 2003, Genetic counseling.

Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.

T. de Ravel, K. Devriendt, W. V. D. Van de Ven, 2002, American journal of medical genetics.

Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members.

W. V. D. Van de Ven, L. de Smet, P. Debeer, 1998, Clinical Dysmorphology.

Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

G. Fabry, F. Goodman, P. Debeer, 2000, European Journal of Human Genetics.