Lista de obras - Roelof-Jan Oostra - Dominio Público Uruguay

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

artículo científico publicado en 1997

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Brachmann-de Lange syndrome "avant la lettre".

artículo científico publicado en 1994

Colourimetric analysis of thermally altered human bone samples.

artículo científico publicado en 2019

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

artículo científico publicado el 1 de mayo de 1998

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

artículo científico publicado el 1 de mayo de 1998

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

artículo científico publicado el 30 de octubre de 1998

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

artículo científico publicado el 30 de octubre de 1998

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

artículo científico publicado el 30 de octubre de 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Digital data and the 19th century teratology collection.

artículo científico publicado en 1999

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

artículo científico publicado en 2016

Historical aspects of the study of malformations in The Netherlands ⬇️

artículo científico publicado el 1 de mayo de 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.

artículo científico publicado en 1994

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2014

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.

artículo científico publicado en 1997

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

artículo científico publicado en 2016

Pectus excavatum and carinatum

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 1996

Reply to Hofmann et al.

artículo científico publicado en 1998

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

artículo científico publicado en 1993

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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.

artículo científico publicado en 1995

Single origin of the epithelium of the human middle ear

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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?

artículo científico publicado en 2007

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

artículo científico publicado en 2016

[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)]

artículo científico publicado en 1992

Lista de obras de Roelof-Jan Oostra

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

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

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

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

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

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

Brachmann-de Lange syndrome "avant la lettre".

Colourimetric analysis of thermally altered human bone samples.

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

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

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

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

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

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

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

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

Digital data and the 19th century teratology collection.

Dutch population specific sex estimation formulae using the proximal femur

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

Historical aspects of the study of malformations in The Netherlands ⬇️

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

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

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

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

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

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

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

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

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

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

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

On the many faces of Leber hereditary optic neuropathy.

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

Pectus excavatum and carinatum

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

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

Reply to Hofmann et al.

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

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

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

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

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

Single origin of the epithelium of the human middle ear

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

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

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

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

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

The development of the human notochord

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

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

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

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

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

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

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

[Diseases caused by mitochondrial DNA mutations]

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

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