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List of works by Roelof-Jan Oostra

A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

scientific article

A review of the embryological development and associated developmental abnormalities of the sternum in the light of a rare palaeopathological case of sternal clefting

scientific article published on 07 March 2013

Abnormal growth of the proximal femur due to apophyseal-epiphyseal coalescence resulting in coxa valga--a report of two cases in adolescents

scientific article

Absence of the spleen(s) in conjoined twins: a diagnostic clue of laterality defects? Radiological study of historical specimens.

scientific article

An interactive three-dimensional digital atlas and quantitative database of human development

scientific article published in November 2016

Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?

scientific article published on 01 October 2006

Brachmann-de Lange syndrome "avant la lettre".

scientific article published in September 1994

Colourimetric analysis of thermally altered human bone samples.

scientific article

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies ⬇️

scientific article published on May 1, 1998

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias ⬇️

scientific article published on May 1, 1998

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. iii: primary field defects, sequences, and other complex anomalies ⬇️

scientific article published on October 30, 1998

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. iv: closure defects of the neural tube ⬇️

scientific article published on October 30, 1998

Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, the Netherlands. v: conjoined and acardiac twins ⬇️

scientific article published on October 30, 1998

Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton

scientific article

Development of a mRNA profiling multiplex for the inference of organ tissues

scientific article

Development of the hearts of lizards and snakes and perspectives to cardiac evolution

scientific article published in 2013

Digital data and the 19th century teratology collection.

scientific article

Dutch population specific sex estimation formulae using the proximal femur

scientific article published on 23 December 2017

Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy

scientific article published on 29 April 2016

Historical aspects of the study of malformations in The Netherlands ⬇️

scientific article published on May 1, 1998

In patients with pseudoxanthoma elasticum a thicker and more elastic carotid artery is associated with elastin fragmentation and proteoglycans accumulation

scientific article published on 01 August 2004

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

scientific article

Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.

scientific article published in January 1995

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

scientific article published on 01 September 1994

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

scientific article

Lost and found: The identification process of human bodies recovered from the North Sea.

scientific article

Malformations of the axial skeleton in Museum Vrolik I: homeotic transformations and numerical anomalies

scientific article published on 01 April 2005

Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions

article published in 2005

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy

scientific article published on 01 September 1993

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

scientific article

No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

scientific article published on 01 April 1996

On the many faces of Leber hereditary optic neuropathy.

scientific article published in June 1997

Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.

scientific article

Pectus excavatum and carinatum

scientific article published on 10 May 2014

Postmortem imaging exposed: an aid in MR imaging of musculoskeletal structures

scientific article published on 14 September 2012

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

scientific article published on August 1996

Reply to Hofmann et al.

scientific article published in February 1998

Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease

scientific article published on 01 January 1993

Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?

scientific article published in November 2005

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

scientific article

Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen

scientific article published on 01 June 1998

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

scientific article published on October 1995

Single origin of the epithelium of the human middle ear

scientific article published on 21 May 2019

Sinus venosus incorporation: contentious issues and operational criteria for developmental and evolutionary studies

scientific article published on 12 March 2019

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

scientific article published on January 1997

Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

scientific article published on 01 April 2003

The anatomy in relation to injury of the lateral collateral ligaments of the ankle: a current concepts review.

scientific article published on October 2008

The applicability of forensic time since death estimation methods for buried bodies in advanced decomposition stages

scientific article published on 09 December 2020

The development of the human notochord

scientific article published in PLoS ONE

The hypertrabeculated (noncompacted) left ventricle is different from the ventricle of embryos and ectothermic vertebrates.

scientific article published on 26 October 2015

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain

scientific article published on 01 October 1995

Towards a 3-dimensional atlas of the developing human embryo: the Amsterdam experience

scientific article published on 26 May 2012

Trapezius aplasia: indications for a dual developmental origin of the trapezius muscle

scientific article

Two is a Crowd: Two is a Crowd: On the Enigmatic Etiopathogenesis of Conjoined Twinning

scientific article published on 29 April 2019

Unilateral partial absence of the fallopian tube in Williams syndrome: a new feature?

scientific article published on 01 July 2007

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome

scientific article

[Diseases caused by mitochondrial DNA mutations]

scientific article published on 01 July 1995

[Leber's optic nerve atrophy; a mitochondrial hereditary disease]

scientific article published on 01 July 1995

[Severe complications following an adeno-tonsillectomy in a patient with Hunter's syndrome (MPS II)]

scientific article published on 01 February 1992

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