Hoogeboom, A. Jeannette M.: search on Z-Library

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1

Clinical and Genetic Analysis of Patients with Saethre-Chotzen Syndrome

de Heer, Inge Marieke, de Klein, Annelies, van den Ouweland, Ans M., Vermeij-Keers, Christl, Wouters, Cokkie H., Vaandrager, Jan Michiel, Hovius, Steven E. R., Hoogeboom, Jeannette M.

Journal:

Plastic & Reconstructive Surgery

Year:

2005

Language:

english

File:

PDF, 836 KB

english, 2005

2

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

Vandervore, Laura V., Schot, Rachel, Hoogeboom, A. Jeannette M., Lincke, Carsten, de Coo, Irenaeus F., Lequin, Maarten H., Dremmen, Marjolein, van Unen, Leontine M.A., Saris, Jasper J., Jansen, Anna C

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 3.75 MB

english, 2018

3

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Hagen, Jacob, te Brinke, Heleen, Wanders, Ronald J. A., Knegt, Alida C., Oussoren, Esmee, Hoogeboom, A. Jeannette M., Ruijter, George J. G., Becker, Daniel, Schwab, Karl Otfried, Franke, Ingo, Duran,

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 397 KB

english, 2015

4

Familial gigantism caused by an NSD1 mutation

Mieke M. van Haelst, Jeannette J.M. Hoogeboom, Genevieve Baujat, Hennie T. Brüggenwirth, Ingrid Van de Laar, Kim Coleman, Nazneen Rahman, Martinus F. Niermeijer, Sten L.S. Drop, Peter J. Scambler

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 208 KB

english, 2005

5

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.67 MB

english, 2018

6

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum ofPNKPmutations

Cathryn Poulton,Renske Oegema,Daphne Heijsman,Jeannette Hoogeboom…

Journal:

Year:

2013

Language:

english

File:

PDF, 549 KB

english, 2013

7

Brachydactyly

Bosch, Daniëlle G.M., van Nieuwenhoven, Christianne A., Hoogeboom, A. Jeannette M.

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

8

Pfeiffer syndrome: the importance of prenatal diagnosis

Nieuwenhuyzen-De Boer, Gatske M., Hoogeboom, A. Jeannette M., Smit, Liesbeth S., Heydanus, Roger, Eggink, Alex J.

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2014

Language:

english

File:

PDF, 356 KB

english, 2014

9

Lymphangiectasia with persistent Müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome

Mieke M. van Haelst, Jeannette Hoogeboom, Robert-Jan H. Galjaard, Wim J. Kleijer, Nicolette S. den Hollander, Ronald R. de Krijger, Raoul C. M. Hennekam, Martinus F. Niermeijer

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

10

Preaxial polydactyly of the foot

Burger, Elise B, Baas, Martijn, Hovius, Steven E R, Hoogeboom, A Jeannette M, van Nieuwenhoven, Christianne A

Journal:

Acta Orthopaedica

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

11

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

12

WNT5A mutations in patients with autosomal dominant Robinow syndrome

Anthony D. Person, Soraya Beiraghi, Christine M. Sieben, Spencer Hermanson, Ann N. Neumann, Mara E. Robu, J. Robert Schleiffarth, Charles J. Billington Jr, Hans van Bokhoven, Jeannette M. Hoogeboom, J

Journal:

Developmental Dynamics

Year:

2010

Language:

english

File:

PDF, 479 KB

english, 2010

13

Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q

Bert B.A. de Vries, Willem F.M. Arts, Guido J. Breedveld, Jeannette J.M. Hoogeboom, Martinus F. Niermeijer, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

14

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline AC, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan

Journal:

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

15

Postnatal Onset of Craniosynostosis in a Case of Saethre-Chotzen Syndrome

de Heer, Inge Marieke, Hoogeboom, Jeannette, Vermeij-Keers, Christl, de Klein, Annelies, Vaandrager, Jan Michiel

Journal:

Journal of Craniofacial Surgery

Year:

2004

Language:

english

File:

PDF, 4.32 MB

english, 2004

16

Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

Brooks, Alice S., van Dooren, Marieke, Hoogeboom, Jeannette, Gischler, Saskia, Willems, Patrick J., Tibboel, Dick

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 203 KB

english, 2002

17

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 345 KB

2020

18

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Galjaard, Robert-Jan H, Kostakoglu, Naci, Hoogeboom, Jeannette J M, Breedveld, Guido J, van der Linde, Herma C, Hovius, Steven ER, Oostra, Ben A, Sandkuijl, Lodewijk A, Akarsu, A Nurten, Heutink, Pete

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 150 KB

english, 2001

19

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Sl

Journal:

Year:

2017

Language:

english

File:

PDF, 7.57 MB

english, 2017

20

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dy

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 86 KB

english, 2013

21

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Baas, Martijn, Potuijt, Jacob W.P., Hovius, Steven E.R., Hoogeboom, A. Jeannette M., Galjaard, Robert-Jan H., van Nieuwenhoven, Christianne A.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

22

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A Jeannette M, Olsson Engman, Mia, Hollemans, Tess, Schouten, M

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 801 KB

english, 2017

23

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p

Renske Oegema, Laura J.C.M. van Zutven, Daniella A.C.M. van Hassel, Guido C.M. Huijbregts, A. Jeannette M. Hoogeboom

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 988 KB

english, 2012

24

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

Florisson, Joyce M.G., Mathijssen, Irene M.J., Dumee, Belinda, Hoogeboom, Jeannette A.M., Poddighe, Pino J., Oostra, Ben A., Frijns, Jean Pierre, Koster, Linda, de Klein, Annelies, Eussen, Bert, de Vr

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 666 KB

english, 2013

25

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M., Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A. Jeannette M., Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H., van Sl

Journal:

Year:

2017

Language:

english

File:

PDF, 218 KB

english, 2017

26

Trigonocephaly in Muenke syndrome

Jacques van der Meulen, Ans van den Ouweland, Jeannette Hoogeboom

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

27

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12 -Related Craniosynostosis

Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank

Journal:

Year:

2016

Language:

english

File:

PDF, 404 KB

english, 2016

28

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dy

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 833 KB

english, 2013

29

Kabuki syndrome: a review study of three hundred patients

Wessels, Marja W., Brooks, Alice S., Hoogeboom, Jeannette, Niermeijer, Martinus F., Willems, Patrick J.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 258 KB

english, 2002

30

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, M. Teresa Lourenço, Jenny E.V. Morton, Eliza

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 530 KB

english, 2006

31

Boston type craniosynostosis: Report of a second mutation in MSX2

Florisson, Joyce M.G., Verkerk, Annemieke J.M.H., Huigh, Daphne, Hoogeboom, A. Jeannette M., Swagemakers, Sigrid, Kremer, Andreas, Heijsman, Daphne, Lequin, Maarten H., Mathijssen, Irene M.J., van der

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 4.58 MB

english, 2013

32

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hil

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 1.09 MB

english, 2013

33

A novel mutation in FGFR2

Goos, Jacqueline A. C., van den Ouweland, Ans M. W., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Hoogeboom, A. Jeannette M., van Veelen, Marie-Lise C., Mathijssen, Irene M. J., van der Spe

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

34

Additional Phenotypic Features of Muenke Syndrome in 2 Dutch Families

de Jong, Tim, Mathijssen, Irene M. J., Hoogeboom, A. Jeannette M.

Journal:

Journal of Craniofacial Surgery

Year:

2011

Language:

english

File:

PDF, 177 KB

english, 2011

35

Periventricular nodular heterotopia and distal limb deficiency: A recurrent association

Marie Claire Y. de Wit, Irenaeus F.M. de Coo, Rachel Schot, A. Jeannette M. Hoogeboom, Maarten H. Lequin, Annemieke J.M.H. Verkerk, Grazia M.S. Mancini

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 155 KB

english, 2010

36

A patient with chromosome 18p deletion and congenital hypoglossia

Klaphake, Sanne, van Dooren, Marieke F., Senden, Richelle E.M., Hoogeboom, A. Jeannette M., Wolvius, Eppo B., Koudstaal, Maarten J.

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 119 KB

english, 2017

37

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

Nellen, Ruud G. L., Nagtzaam, Ivo F., Hoogeboom, A. Jeannette M., Bladergroen, Reno S., Jonkman, Marcel F., Steijlen, Peter M., van Steensel, Maurice A. M., van Geel, Michel

Journal:

Experimental Dermatology

Year:

2015

Language:

english

File:

PDF, 330 KB

english, 2015

38

Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

Lars T van der Veken, Marianne MJ Dieleman, Hannie Douben, Judith C van de Brug, Raoul van de Graaf, A Jeannette M Hoogeboom, Pino J Poddighe, Annelies de Klein

Journal:

Molecular Cytogenetics

Year:

2010

Language:

english

File:

PDF, 2.41 MB

english, 2010

39

A de novo GLI 3 mutation in a patient with acrocallosal syndrome

Speksnijder, Leonie, Cohen-Overbeek, Titia E., Knapen, Maarten F.C.M., Lunshof, Simone M., Hoogeboom, A. Jeannette M., van den Ouwenland, Ans M., de Coo, Irenaneus F.M., Lequin, Maarten H., Bolz, Hann

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.29 MB

english, 2013

40

Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family

Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harve

Journal:

Frontiers in Molecular Neuroscience

Year:

2016

Language:

english

File:

PDF, 601 KB

english, 2016

41

Unexpected life-threatening complications in Kabuki syndrome

Mieke M. van Haelst, Alice S. Brooks, Jeannette Hoogeboom, Marja W. Wessels, Dick Tibboel, Johan C. de Jongste, Jan C. den Hollander, Jacoba J. Bongers-Schokking, Martinus F. Niermeijer, Patrick J. Wi

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 291 KB

english, 2000

42

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

Elisabeth M. Lodder, Bert H. Eussen, Daniëlla A. C. M. van Hassel, A. Jeannette M. Hoogeboom, Pino J. Poddighe, J. Henk Coert, Ben A. Oostra, Annelies de Klein, Esther de Graaff

Journal:

Chromosome Research

Year:

2009

Language:

english

File:

PDF, 339 KB

english, 2009

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