A. Maugeri

发表

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

B. J. Klevering, F. Cremers, C. Hoyng, 2002, Investigative ophthalmology & visual science.

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

B. J. Klevering, Jeroen B. Klevering, A. Deutman, 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

W. Lems, G. Pals, A. Lammertsma, 2020, Frontiers in Endocrinology.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

J. Timmermans, M. Kempers, D. Micha, 2018, Journal of Medical Genetics.

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

A. Zwinderman, G. Pals, A. W. den Hartog, 2015, Circulation. Cardiovascular genetics.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Masa Umicevic Mirkov, M. Hurles, R. Zwart, 2020, Genetics in Medicine.

Osteogenesis Imperfecta: A Review with Clinical Examples

G. Pals, A. Kariminejad, P. Nikkels, 2011, Molecular Syndromology.

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

B. J. Klevering, F. Cremers, A. Wagner, 2004, Ophthalmology.

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

G. Pals, F. Moll, I. Nijman, 2015, American journal of medical genetics. Part A.

Collagen transport and related pathways in Osteogenesis Imperfecta

G. Pals, D. Micha, L. Wisse, 2021, Human Genetics.

PLS3 mutations in X-linked osteoporosis with fractures

A. Hofman, A. Uitterlinden, B. Wirth, 2014 .

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

J. Roos‐Hesselink, J. Bekkers, M. Kempers, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

A. Goris, W. Robberecht, V. Thijs, 2013, Human molecular genetics.

Clinical utility gene card for: osteogenesis imperfecta

G. Pals, R. Dalgleish, O. Semler, 2012, European Journal of Human Genetics.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

G. Vriend, G. Pals, D. Milewicz, 2015, Human mutation.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

G. Mancini, J. Cobben, F. V. van Dijk, 2017, European journal of medical genetics.

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

M. Kempers, B. V. van Engelen, B. Hamel, 2017, Clinical genetics.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

M. Kempers, V. Verhoeven, J. M. van de Kamp, 2017, European journal of medical genetics.

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

D. Barge-Schaapveld, M. Weiss, J. P. van Tintelen, 2018, Molecular genetics & genomic medicine.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

G. Pals, Q. Waisfisz, H. Meijers-Heijboer, 2020, American journal of human genetics.

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

G. Pals, P. Nikkels, R. V. van Rijn, 2012, Nederlands tijdschrift voor geneeskunde.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa

B. J. Klevering, F. Cremers, C. Hoyng, 2004, European Journal of Human Genetics.

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant

G. Pals, S. Kõks, D. Micha, 2022, Genes.

PLS3 mutations in X-linked osteoporosis with fractures.

A. Hofman, A. Uitterlinden, B. Wirth, 2013, The New England journal of medicine.

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

F. Cremers, C. Hoyng, Zhenglin Yang, 2004, Investigative ophthalmology & visual science.

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

F. Cremers, M. V. van Driel, C. Hoyng, 2003, Investigative ophthalmology & visual science.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Raymond Dalgleish, Marianne Rohrbach, Fransiska Malfait, 2011, European Journal of Human Genetics.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

R. Roepman, F. Cremers, H. Ropers, 2000, Human molecular genetics.

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

M. Weiss, H. Verhagen, H. Brüggenwirth, 2015, Human Genetics.

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

A. D. den Hollander, M. Weiss, R. Qamar, 2012, Molecular vision.

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1

K. Yeung, D. Micha, J. Essers, 2021, Human molecular genetics.

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1

A. Houweling, M. Baars, E. Overwater, 2019, Netherlands Heart Journal.

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

H. Brunner, F. Cremers, C. Hoyng, 2006, Investigative ophthalmology & visual science.

Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient

D. Bonneau, L. Gouya, C. Boileau, 2020, Clinical genetics.

Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1.

B. Hamel, A. Sadiq, A. Maugeri, 2022, European journal of medical genetics.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Masa Umicevic Mirkov, M. Hurles, R. Zwart, 2020, Genetics in Medicine.

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

J. Lupski, P. Gouras, A. Hutchinson, 2003, Human mutation.

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

G. Pals, P. Kloen, D. Micha, 2022, Frontiers in Endocrinology.

Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

D. Micha, Wenjie Zhong, A. Maugeri, 2023, Calcified Tissue International.

Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

D. Micha, M. Bugiani, M. Riminucci, 2023, Physiological reports.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

B. J. Klevering, A. Deutman, H. Brunner, 2000, American journal of human genetics.

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

K Rohrschneider, A Blankenagel, B. J. Klevering, 1999, American journal of human genetics.

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation

A. Undas, J. Weiss, D. P. Potaczek, 2017, Clinical chemistry and laboratory medicine.

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

A. D. den Hollander, M. Weiss, R. Qamar, 2012, Molecular vision.

PLS3 mutations in X-linked osteoporosis with fractures.

B. Wirth, G. Pals, Q. Waisfisz, 2013, The New England journal of medicine.