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A J M Hoogeboom

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Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Renske Oegema; Daniella A C M van Hassel; Laura J C M van Zutven; Guido C M Huijbregts; A J M Hoogeboom
Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.
T H Rob de Jong; Irene M J Mathijssen; A J M Hoogeboom
Additional phenotypic features of Muenke syndrome in 2 Dutch families.

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All Publications

2013: Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nature genetics 2013;45(3):304-7.
2012: Renske Oegema; Daniella A C M van Hassel; Laura J C M van Zutven; Guido C M Huijbregts; A J M Hoogeboom
Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.
European journal of medical genetics 2012;55(4):265-8.
2011: T H Rob de Jong; Irene M J Mathijssen; A J M Hoogeboom
Additional phenotypic features of Muenke syndrome in 2 Dutch families.
The Journal of craniofacial surgery 2011;22(2):571-5.
2010: T H Rob de Jong; N Bannink; H H Bredero-Boelhouwer; M L C van Veelen; Marjolijn C Bartels; L J Hans Hoeve; A J M Hoogeboom; Eppo B Wolvius; Maarten H Lequin; J J N M van der Meulen; L N A van Adrichem; J Michiel Vaandrager; Edwin Ongkosuwito; Koen F M Joosten; Irene M J Mathijssen
Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile.
Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2010;63(10):1635-41.
2010: Marie Claire Y de Wit; I F M de Coo; Rachel Schot; A J M Hoogeboom; Maarten H Lequin; Annemieke J M H Verkerk; Grazia M S Mancini
Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.
American journal of medical genetics. Part A 2010;152A(4):954-9.
2009: Stephen R F Twigg; Sarah L Versnel; Gudrun Nürnberg; Melissa M Lees; Meenakshi Bhat; Peter Hammond; Raoul Hennekam; A J M Hoogeboom; Jane A Hurst; David Johnson; Alexis A Robinson; Peter J Scambler; Dianne Gerrelli; Peter Nürnberg; Irene M J Mathijssen; Andrew O M Wilkie
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
American journal of human genetics 2009;84(5):698-705.
2009: Niek Exalto; Titia E Cohen-Overbeek; L N A van Adrichem; Gretel G Oudesluijs; A J M Hoogeboom; Hajo I J Wildschut
[Prenatally detected orofacial cleft].
Nederlands tijdschrift voor geneeskunde 2009;153():B316.
2009: Elisabeth M Lodder; Bert H J Eussen; Daniëlla A C M van Hassel; A J M Hoogeboom; Pino J Poddighe; J Henk Coert; Ben A Oostra; Annelies de Klein; Esther de Graaff
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(6):737-44.
2008: E M Lodder; A J M Hoogeboom; J Henk Coert; Esther de Graaff
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
American journal of medical genetics. Part A 2008;146A(16):2152-4.
2008: L N A van Adrichem; A J M Hoogeboom; Eppo B Wolvius
[Genetics of craniofacial development].
Nederlands tijdschrift voor tandheelkunde 2008;115(2):61-8.
2006: Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A J M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
American journal of human genetics 2006;78(6):999-1010.
2004: Marieke F van Dooren; Alice S Brooks; A J M Hoogeboom; T L van den Hoonaard; J E M M de Klein; Cokkie H Wouters; Dick Tibboel
Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.
American journal of medical genetics. Part A 2004;127A(2):194-6.
2004: Inge Marieke de Heer; A J M Hoogeboom; HJ Eussen; J Michiel Vaandrager; Annelies de Klein
Deletion of the TWIST gene in a large five-generation family.
Clinical genetics 2004;65(5):396-9.
2002: Conny van Ravenswaaij-Arts; Ans M W van den Ouweland; A J M Hoogeboom; Jos Herbergs; G Pals
[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
Nederlands tijdschrift voor geneeskunde 2002;146(2):63-6.
1998: Irene M J Mathijssen; J Michiel Vaandrager; A J M Hoogeboom; AL Hesseling-Janssen; Ans M W van den Ouweland
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
The Journal of craniofacial surgery 1998;9(3):207-9.