PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R. F. Reijnders; Robert Janowski; Mohsan Alvi; Jay E. Self; Ton J. van Essen; Maaike Vreeburg; Rob P. W. Rouhl; Servi J. C. Stevens; Alexander P. A. Stegmann; Jolanda Schieving; Rolph Pfundt; Katinke van Dijk; Eric Smeets; Connie T. R. M. Stumpel; Levinus A. Bok; Jan Maarten Cobben; Marc Engelen; Sahar Mansour; Margo Whiteford; Kate E. Chandler; Sofia Douzgou; Nicola S. Cooper; Ene-Choo Tan; Roger Foo; Angeline H. M. Lai; Julia Rankin; Andrew Green; Tuula Lönnqvist; Pirjo Isohanni; Shelley Williams; Ilene Ruhoy; Karen S. Carvalho; James J. Dowling; Dorit L. Lev; Katalin Sterbova; Petra Lassuthova; Jana Neupauerova; Jeff L. Waugh; Sotirios Keros; Jill Clayton-Smith; Sarah F. Smithson; Han G. Brunner; Ceciel van Hoeckel; Mel Anderson; Virginia E. Clowes; Victoria Mok Siu; Paulo Selber; Richard J. Leventer; Christoffer Nellaker; Dierk Niessing; DDD Study

doi:10.1136/jmedgenet-2017-104946

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Margot R. F. Reijnders, Robert Janowski, Mohsan Alvi, Jay E. Self, Ton J. van Essen, Maaike Vreeburg, Rob P. W. Rouhl, Servi J. C. Stevens, Alexander P. A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E. ChandlerSofia Douzgou, Nicola S. Cooper, Ene-Choo Tan, Roger Foo, Angeline H. M. Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit L. Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerova, Jeff L. Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F. Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, Paulo Selber, Richard J. Leventer, Christoffer Nellaker, Dierk Niessing, DDD Study

Research output: Contribution to journal › Review Article › Scientific › peer-review

Original language	English
Journal	Journal of Medical Genetics
Volume	55
Issue number	2
Pages (from-to)	104-113
Number of pages	10
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmedgenet-2017-104946
Publication status	Published - Feb 2018
MoE publication type	A2 Review article in a scientific journal

Fields of Science

5Q31.3 MICRODELETION SYNDROME
POSTNATAL BRAIN-DEVELOPMENT
ALPHA
REVEALS
PATIENT
GENES
3112 Neurosciences
3124 Neurology and psychiatry

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PURA syndromeFinal published version, 1.41 MBLicence: CC BY-NC

Cite this

Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., ... DDD Study (2018). PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics, 55(2), 104-113. https://doi.org/10.1136/jmedgenet-2017-104946

Reijnders, Margot R. F. ; Janowski, Robert ; Alvi, Mohsan ; Self, Jay E. ; van Essen, Ton J. ; Vreeburg, Maaike ; Rouhl, Rob P. W. ; Stevens, Servi J. C. ; Stegmann, Alexander P. A. ; Schieving, Jolanda ; Pfundt, Rolph ; van Dijk, Katinke ; Smeets, Eric ; Stumpel, Connie T. R. M. ; Bok, Levinus A. ; Cobben, Jan Maarten ; Engelen, Marc ; Mansour, Sahar ; Whiteford, Margo ; Chandler, Kate E. ; Douzgou, Sofia ; Cooper, Nicola S. ; Tan, Ene-Choo ; Foo, Roger ; Lai, Angeline H. M. ; Rankin, Julia ; Green, Andrew ; Lönnqvist, Tuula ; Isohanni, Pirjo ; Williams, Shelley ; Ruhoy, Ilene ; Carvalho, Karen S. ; Dowling, James J. ; Lev, Dorit L. ; Sterbova, Katalin ; Lassuthova, Petra ; Neupauerova, Jana ; Waugh, Jeff L. ; Keros, Sotirios ; Clayton-Smith, Jill ; Smithson, Sarah F. ; Brunner, Han G. ; van Hoeckel, Ceciel ; Anderson, Mel ; Clowes, Virginia E. ; Siu, Victoria Mok ; Selber, Paulo ; Leventer, Richard J. ; Nellaker, Christoffer ; Niessing, Dierk ; DDD Study. / PURA syndrome : clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. In: Journal of Medical Genetics. 2018 ; Vol. 55, No. 2. pp. 104-113.

@article{96213ab5005746ee8298fbba472606bf,

title = "PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature",

keywords = "5Q31.3 MICRODELETION SYNDROME, POSTNATAL BRAIN-DEVELOPMENT, ALPHA, REVEALS, PATIENT, GENES, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Reijnders, {Margot R. F.} and Robert Janowski and Mohsan Alvi and Self, {Jay E.} and {van Essen}, {Ton J.} and Maaike Vreeburg and Rouhl, {Rob P. W.} and Stevens, {Servi J. C.} and Stegmann, {Alexander P. A.} and Jolanda Schieving and Rolph Pfundt and {van Dijk}, Katinke and Eric Smeets and Stumpel, {Connie T. R. M.} and Bok, {Levinus A.} and Cobben, {Jan Maarten} and Marc Engelen and Sahar Mansour and Margo Whiteford and Chandler, {Kate E.} and Sofia Douzgou and Cooper, {Nicola S.} and Ene-Choo Tan and Roger Foo and Lai, {Angeline H. M.} and Julia Rankin and Andrew Green and Tuula L{\"o}nnqvist and Pirjo Isohanni and Shelley Williams and Ilene Ruhoy and Carvalho, {Karen S.} and Dowling, {James J.} and Lev, {Dorit L.} and Katalin Sterbova and Petra Lassuthova and Jana Neupauerova and Waugh, {Jeff L.} and Sotirios Keros and Jill Clayton-Smith and Smithson, {Sarah F.} and Brunner, {Han G.} and {van Hoeckel}, Ceciel and Mel Anderson and Clowes, {Virginia E.} and Siu, {Victoria Mok} and Paulo Selber and Leventer, {Richard J.} and Christoffer Nellaker and Dierk Niessing and {DDD Study}",

year = "2018",

month = feb,

doi = "10.1136/jmedgenet-2017-104946",

language = "English",

volume = "55",

pages = "104--113",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group Ltd",

number = "2",

}

Reijnders, MRF, Janowski, R, Alvi, M, Self, JE, van Essen, TJ, Vreeburg, M, Rouhl, RPW, Stevens, SJC, Stegmann, APA, Schieving, J, Pfundt, R, van Dijk, K, Smeets, E, Stumpel, CTRM, Bok, LA, Cobben, JM, Engelen, M, Mansour, S, Whiteford, M, Chandler, KE, Douzgou, S, Cooper, NS, Tan, E-C, Foo, R, Lai, AHM, Rankin, J, Green, A, Lönnqvist, T, Isohanni, P, Williams, S, Ruhoy, I, Carvalho, KS, Dowling, JJ, Lev, DL, Sterbova, K, Lassuthova, P, Neupauerova, J, Waugh, JL, Keros, S, Clayton-Smith, J, Smithson, SF, Brunner, HG, van Hoeckel, C, Anderson, M, Clowes, VE, Siu, VM, Selber, P, Leventer, RJ, Nellaker, C, Niessing, D & DDD Study 2018, 'PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature', Journal of Medical Genetics, vol. 55, no. 2, pp. 104-113. https://doi.org/10.1136/jmedgenet-2017-104946

PURA syndrome : clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. / Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; DDD Study.

In: Journal of Medical Genetics, Vol. 55, No. 2, 02.2018, p. 104-113.

Research output: Contribution to journal › Review Article › Scientific › peer-review

TY - JOUR

T1 - PURA syndrome

T2 - clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

AU - Reijnders, Margot R. F.

AU - Janowski, Robert

AU - Alvi, Mohsan

AU - Self, Jay E.

AU - van Essen, Ton J.

AU - Vreeburg, Maaike

AU - Rouhl, Rob P. W.

AU - Stevens, Servi J. C.

AU - Stegmann, Alexander P. A.

AU - Schieving, Jolanda

AU - Pfundt, Rolph

AU - van Dijk, Katinke

AU - Smeets, Eric

AU - Stumpel, Connie T. R. M.

AU - Bok, Levinus A.

AU - Cobben, Jan Maarten

AU - Engelen, Marc

AU - Mansour, Sahar

AU - Whiteford, Margo

AU - Chandler, Kate E.

AU - Douzgou, Sofia

AU - Cooper, Nicola S.

AU - Tan, Ene-Choo

AU - Foo, Roger

AU - Lai, Angeline H. M.

AU - Rankin, Julia

AU - Green, Andrew

AU - Lönnqvist, Tuula

AU - Isohanni, Pirjo

AU - Williams, Shelley

AU - Ruhoy, Ilene

AU - Carvalho, Karen S.

AU - Dowling, James J.

AU - Lev, Dorit L.

AU - Sterbova, Katalin

AU - Lassuthova, Petra

AU - Neupauerova, Jana

AU - Waugh, Jeff L.

AU - Keros, Sotirios

AU - Clayton-Smith, Jill

AU - Smithson, Sarah F.

AU - Brunner, Han G.

AU - van Hoeckel, Ceciel

AU - Anderson, Mel

AU - Clowes, Virginia E.

AU - Siu, Victoria Mok

AU - Selber, Paulo

AU - Leventer, Richard J.

AU - Nellaker, Christoffer

AU - Niessing, Dierk

AU - DDD Study

PY - 2018/2

Y1 - 2018/2

KW - 5Q31.3 MICRODELETION SYNDROME

KW - POSTNATAL BRAIN-DEVELOPMENT

KW - ALPHA

KW - REVEALS

KW - PATIENT

KW - GENES

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1136/jmedgenet-2017-104946

DO - 10.1136/jmedgenet-2017-104946

M3 - Review Article

VL - 55

SP - 104

EP - 113

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 2

ER -