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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Frontiers in endocrinology (Lausanne), 2022-10, Vol.13, p.1015244-1015244

2022

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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.213-213, Article 213

2024

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A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

Frontiers in endocrinology (Lausanne), 2022-05, Vol.13, p.866831

2022

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A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Acta dermato-venereologica, 2018-05, Vol.98 (5), p.534-535

2018

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Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

American journal of human genetics, 2004-06, Vol.74 (6), p.1209-1215

2004

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Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia

Frontiers in neuroscience, 2021-10, Vol.15, p.718958-718958

2021

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Possible New Strategies for the Treatment of Congenital Hyperinsulinism

Frontiers in endocrinology (Lausanne), 2020-10, Vol.11, p.545638-545638

2020

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Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

JEADV clinical practice, 2022-12, Vol.1 (4), p.416-419

2022

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Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

NeuroImage clinical, 2022-01, Vol.33, p.102925-102925, Article 102925

2022

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Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.110-116

2005

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Dissecting the molecular mechanisms in craniofrontonasal syndrome : differential mRNA expression of mutant EFNB1 and the cellular mosaic

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.184-191

2008

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The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BMC medical genetics, 2010-06, Vol.11 (1), p.98-98, Article 98

2010

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Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

Oncogene, 2005-10, Vol.24 (44), p.6667-6675

2005

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INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling

Cancer cell international, 2009-11, Vol.9 (1), p.28-28

2009

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Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3122-3128

2021

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Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

Anticancer research, 2020-06, Vol.40 (6), p.3423-3427

2020

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Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion

Anticancer research, 2022-06, Vol.42 (6), p.2945-2952

2022

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Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones

Investigative ophthalmology & visual science, 2023-10, Vol.64 (13), p.23-23

2023

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Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos

Human molecular genetics, 2021-12, Vol.31 (1), p.10-17

2021

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Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Familial cancer, 2023-10, Vol.22 (4), p.475-480

2023

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Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

Pigment cell and melanoma research, 2019-05, Vol.32 (3), p.470-473

2019

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High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.889-891

2013

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Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome

Investigative ophthalmology & visual science, 2015-11, Vol.56 (12), p.7427-7437

2015

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Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis

Neuropathology and applied neurobiology, 2022-10, Vol.48 (6), p.e12830-n/a

2022

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Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia

Possible New Strategies for the Treatment of Congenital Hyperinsulinism

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

Clinical and genetic aspects of craniofrontonasal syndrome: Towards resolving a genetic paradox

Dissecting the molecular mechanisms in craniofrontonasal syndrome : differential mRNA expression of mutant EFNB1 and the cellular mosaic

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg

Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion

Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome

Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome

Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS‐mutant neurocutaneous melanosis

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