Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Fred Petrij; HG Dauwerse; RI Blough; RH Giles; JJ van der Smagt; R Wallerstein; PD Maaswinkel-Mooy; CD van Karnebeek; G-JB van Ommen; A van Haeringen; JH Rubinstein; HM Saal; RCM Hennekam; DJM Peters; MH Breuning

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Fred Petrij, HG Dauwerse, RI Blough, RH Giles, JJ van der Smagt, R Wallerstein, PD Maaswinkel-Mooy, CD van Karnebeek, G-JB van Ommen, A van Haeringen, JH Rubinstein, HM Saal, RCM Hennekam, DJM Peters, MH Breuning

Research output: Contribution to journal › Article › Academic › peer-review

107 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	168-176
Number of pages	9
Journal	Journal of Medical Genetics
Volume	37
Publication status	Published - 2000

Research programs

EMC MGC-02-96-01

Cite this

Petrij, F., Dauwerse, HG., Blough, RI., Giles, RH., van der Smagt, JJ., Wallerstein, R., Maaswinkel-Mooy, PD., van Karnebeek, CD., van Ommen, G.-JB., van Haeringen, A., Rubinstein, JH., Saal, HM., Hennekam, RCM., Peters, DJM., & Breuning, MH. (2000). Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. Journal of Medical Genetics, 37, 168-176.

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title = "Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations",

author = "Fred Petrij and HG Dauwerse and RI Blough and RH Giles and {van der Smagt}, JJ and R Wallerstein and PD Maaswinkel-Mooy and {van Karnebeek}, CD and {van Ommen}, G-JB and {van Haeringen}, A and JH Rubinstein and HM Saal and RCM Hennekam and DJM Peters and MH Breuning",

year = "2000",

language = "Undefined/Unknown",

volume = "37",

pages = "168--176",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

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Petrij, F, Dauwerse, HG, Blough, RI, Giles, RH, van der Smagt, JJ, Wallerstein, R, Maaswinkel-Mooy, PD, van Karnebeek, CD, van Ommen, G-JB, van Haeringen, A, Rubinstein, JH, Saal, HM, Hennekam, RCM, Peters, DJM & Breuning, MH 2000, 'Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations', Journal of Medical Genetics, vol. 37, pp. 168-176.

TY - JOUR

T1 - Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

AU - Petrij, Fred

AU - Dauwerse, HG

AU - Blough, RI

AU - Giles, RH

AU - van der Smagt, JJ

AU - Wallerstein, R

AU - Maaswinkel-Mooy, PD

AU - van Karnebeek, CD

AU - van Ommen, G-JB

AU - van Haeringen, A

AU - Rubinstein, JH

AU - Saal, HM

AU - Hennekam, RCM

AU - Peters, DJM

AU - Breuning, MH

PY - 2000

Y1 - 2000

M3 - Article

SN - 0022-2593

VL - 37

SP - 168

EP - 176

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -