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Jan Maarten Cobben

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Chemicals & Drugs

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Newborn Infant

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Netherlands

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Publications

TOP 3
Nadia Abdelmalik; Raoul Hennekam; Grazia Mancini; Dominique Marcus-Soekarman; Connie Schrander-Stumpel; Mieke van Haelst; Jan Maarten Cobben
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
Sabine Rudnik-Schöneborn; Jan Maarten Cobben; Thomas Eggermann; Wolfram Kress; Henny H Lemmink; Klaus Zerres
Clinical utility gene card for: proximal spinal muscular atrophy.
Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; Alessandra Maugeri; Peter Nikkels; Gerard Pals
[Osteogenesis imperfecta: clinical and genetic heterogeneity].

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All Publications

2013: Nadia Abdelmalik; Raoul Hennekam; Grazia Mancini; Dominique Marcus-Soekarman; Connie Schrander-Stumpel; Mieke van Haelst; Jan Maarten Cobben
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
American journal of medical genetics. Part A 2013;161A(2):254-60.
2012: Sabine Rudnik-Schöneborn; Jan Maarten Cobben; Thomas Eggermann; Wolfram Kress; Henny H Lemmink; Klaus Zerres
Clinical utility gene card for: proximal spinal muscular atrophy.
European journal of human genetics : EJHG 2012;20(6):.
2012: Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; Alessandra Maugeri; Peter Nikkels; Gerard Pals
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
Nederlands tijdschrift voor geneeskunde 2012;156(21):A4585.
2012: E D Setijowati; Erik A Sistermans; Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; S M H Faradz; S Kawiyana; Gerard Pals
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
European journal of medical genetics 2012;55(1):17-21.
2011: Sanne Piepers; Bwee Tien Poll-The; Peter Sodaar; Jan Maarten Cobben; Marc D Jansen; Henny H Lemmink; Ann Meester-Delver; W-Ludo van der Pol; Renske I Wadman; J H J Wokke; Leonard H Van den Berg
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.
Journal of neurology, neurosurgery, and psychiatry 2011;82(8):850-2.
2011: Fleur van Dijk; H F van Thuijl; A Wermeskerken; Rick van Rijn; Jan Maarten Cobben
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.
European journal of medical genetics 2011;54(3):284-6.
2011: Fleur S van Dijk; Rick R van Rijn; Jan Maarten Cobben; Nicolette S den Hollander; Isabel M Nesbitt; Peter Nikkels; Gerard Pals
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2011;14(3):228-34.
2011: Daniela Q C M Barge-Schaapveld; Alice S Brooks; Maarten H Lequin; Rosalinda van Spaendonk; R Jeroen Vermeulen; Jan Maarten Cobben
Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.
Pediatric neurology 2011;44(4):303-7.
2010: Fleur van Dijk; Margriet Huizer; Ariana Kariminejad; Carlo L Marcelis; Astrid S Plomp; Paulien A Terhal; Hanne Meijers-Heijboer; Janneke Weiss; Rick van Rijn; Jan Maarten Cobben; Gerard Pals
Complete COL1A1 allele deletions in osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(11):736-41.
2010: Fleur van Dijk; Gerard Pals; Rick van Rijn; Peter Nikkels; Jan Maarten Cobben
Classification of Osteogenesis Imperfecta revisited.
European journal of medical genetics 2010;53(1):1-5.
2009: Fleur van Dijk; Isabel M Nesbitt; Peter Nikkels; Ann Dalton; Ernie M H F Bongers; Jiddeke M van de Kamp; Yvonne Hilhorst-Hofstee; Nicolette S Den Hollander; Augusta M A Lachmeijer; Carlo L Marcelis; G Tan-Sindhunata; Rick van Rijn; Hanne Meijers-Heijboer; Jan Maarten Cobben; Gerard Pals
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
European journal of human genetics : EJHG 2009;17(12):1560-9.
2009: Fleur van Dijk; B C Hamel; Y Hilhorst-Hofstee; B J M Mulder; J Timmermans; G Pals; Jan Maarten Cobben
Compound-heterozygous Marfan syndrome.
European journal of medical genetics 2009;52(1):1-5.
2008: Leonie A Menke; Emilia K Bijlsma; Anthonie J van Essen; Marie-José H van den Boogaard; Rick van Rijn; Jan Maarten Cobben
Ectrodactyly with fibular aplasia: a separate entity?
European journal of medical genetics 2008;51(5):488-96.
2008: Leonie A Menke; Bwee Tien Poll-The; Sally-Ann Barker Clur; Catia M Bilardo; Allard C van der Wal; Henny H Lemmink; Jan Maarten Cobben
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
American journal of medical genetics. Part A 2008;146A(6):740-4.
2008: Hester Y Kroes; Patrick H A van Zon; Dietje Fransen van de Putte; Marcel R Nelen; Rutger-Jan Nievelstein; Dienke Wittebol-Post; Onno Van Nieuwenhuizen; Grazia M S Mancini; Marjo S van der Knaap; Mei Lan Kwee; Saskia M Maas; Jan Maarten Cobben; Jacques E E De Nef; Dick Lindhout; Richard J Sinke
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
European journal of medical genetics 2008;51(1):24-34.
2005: Marieke J H Baars; A J J A Scherpbier; Lambert W T Schuwirth; Lidewij Henneman; Frits A Beemer; Jan Maarten Cobben; Raoul Hennekam; Marian M J J Verweij; Martina C Cornel; Leo P ten Kate
Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(5):295-301.
2004: Koen Deurloo; Jan Maarten Cobben; Yvonne M Heins; M de Ru; L C D Wijnaendts; John M G van Vugt
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report.
Prenatal diagnosis 2004;24(10):796-8.
2004: Hester Y Kroes; Richard S Olney; Aldo Rosano; Yinghui Liu; Eduardo E Castilla; Guido Cocchi; Catherine de Vigan; María Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Paul Merlob; Osvaldo M Mutchinick; Annukka Ritvanen; Claude Stoll; Anthonie J van Essen; Jan Maarten Cobben; Martina C Cornel
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
American journal of medical genetics. Part A 2004;129A(2):149-55.
2002: Y C M Duijvestijn; Jan Maarten Cobben; B Leegte; Tjalling W de Vries
Fishing for a diagnosis.
Genetic counseling (Geneva, Switzerland) 2002;13(1):49-54.
2001: Jan Maarten Cobben; M de Visser; Hans Scheffer
[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].
Nederlands tijdschrift voor geneeskunde 2001;145(52):2525-7.
2001: B Leegte; Birgit Sikkema-Raddatz; R Hordijk; Inge Davelaar; Anneke Y van der Veen; Jan Maarten Cobben
Two unbalanced segregation products due to a maternal t(7;16)inv(16).
Prenatal diagnosis 2001;21(7):550-2.
2001: Hans Scheffer; Jan Maarten Cobben; G Matthijs; B Wirth
Best practice guidelines for molecular analysis in spinal muscular atrophy.
European journal of human genetics : EJHG 2001;9(7):484-91.
2001: Monique C Haak; Jan Maarten Cobben; John M G van Vugt
First trimester diagnosis of split hand/foot by transvaginal ultrasound.
Fetal diagnosis and therapy 2001;16(3):146-9.
2001: Jan Veldink; Leonard H Van den Berg; Jan Maarten Cobben; Rein P Stulp; J M B V de Jong; O J M Vogels; Frank Baas; J H J Wokke; Hans Scheffer
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.
Neurology 2001;56(6):749-52.
2000: C Blanck; Juergen Kohlhase; S Engels; Peter Burfeind; Wolfgang Engel; Armand Bottani; M S Patel; Hester Y Kroes; Jan Maarten Cobben
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
Journal of medical genetics 2000;37(4):303-7.
2000: Hans Scheffer; Jan Maarten Cobben; R G Mensink; Rein P Stulp; Gerrit van der Steege; Charles H C M Buys
SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
European journal of human genetics : EJHG 2000;8(2):79-86.