Lista de obras - Fanny Morice-Picard - Dominio Público Uruguay

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

artículo científico publicado en 2015

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

artículo científico publicado en 2020

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis

article

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

artículo científico publicado en 2008

Albinism in a patient with mutations at both the OA1 and OCA3 loci

artículo científico publicado en 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

artículo científico publicado en 2015

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

artículo científico publicado en 2011

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome

artículo científico publicado en 2016

Brachydactyly type A1 with short humerus and associated skeletal features

artículo científico publicado en 2010

Burden of albinism: development and validation of a burden assessment tool

artículo científico publicado en 2018

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

artículo científico publicado en 2017

Cole Disease Results from Mutations in ENPP1.

artículo científico publicado en 2013

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

artículo científico publicado en 2016

Correction: Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation

artículo científico publicado en 2015

Cutaneous epidermal cysts as a presentation of gorlin syndrome

artículo científico publicado en 2009

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review

artículo científico publicado en 2013

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

artículo científico publicado en 2018

Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo

artículo científico publicado en 2013

Diagnosis of some common and uncommon hyperpigmentation disorders in children

scholarly article by Alain Taıeb et al published December 2014 in Dermatologica Sinica

Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation

artículo científico publicado en 2015

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

scientific article published on 02 December 2018

Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation

article

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

artículo científico publicado en 2015

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

artículo científico publicado en 2017

Hallerman–Streiff-like syndrome presenting with laterality and cardiac defects

artículo científico publicado en 2009

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

artículo científico publicado en 2019

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

artículo científico publicado en 2010

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

artículo científico

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines

artículo científico publicado en 2016

Identification of a complex 17q rearrangement in a metanephric stromal tumor

scientific article published on 01 June 2011

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

scientific article published on 01 June 2010

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

article

In this Issue: Comments on the Proposed Term Pleomorphic Ichthyosis ⬇️

artículo científico publicado el 1 de septiembre de 2010

Increasing the complexity: new genes and new types of albinism.

artículo científico publicado en 2013

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

artículo científico publicado en 2017

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular characterization of a series of 990 index patients with albinism.

artículo científico publicado en 2018

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

artículo científico publicado en 2008

Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

scientific article published on 22 October 2018

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

artículo científico publicado en 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

artículo científico publicado en 2016

New clinico-genetic classification of trichothiodystrophy

artículo científico publicado en 2009

Nicolaides-Baraitser syndrome: Delineation of the phenotype

artículo científico publicado en 2009

Novel KRT83 and KRT86 mutations associated with monilethrix.

artículo científico publicado en 2015

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

artículo científico publicado en 2020

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses

artículo científico publicado en 2018

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

artículo científico publicado en 2008

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

artículo científico publicado en 2010

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

artículo científico publicado en 2013

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

artículo científico publicado en 2011

Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo

artículo científico publicado en 2008

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect

scientific article published on 24 July 2019

Lista de obras de Fanny Morice-Picard

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

Albinism in a patient with mutations at both the OA1 and OCA3 loci

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome

Brachydactyly type A1 with short humerus and associated skeletal features

Burden of albinism: development and validation of a burden assessment tool

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Cole Disease Results from Mutations in ENPP1.

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Correction: Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation

Cutaneous epidermal cysts as a presentation of gorlin syndrome

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo

Diagnosis of some common and uncommon hyperpigmentation disorders in children

Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation

Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment

Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP Mutation

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients

Hallerman–Streiff-like syndrome presenting with laterality and cardiac defects

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Identification of a complex 17q rearrangement in a metanephric stromal tumor

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana

In this Issue: Comments on the Proposed Term Pleomorphic Ichthyosis ⬇️

Increasing the complexity: new genes and new types of albinism.

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular characterization of a series of 990 index patients with albinism.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

New clinico-genetic classification of trichothiodystrophy

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Novel KRT83 and KRT86 mutations associated with monilethrix.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo

Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect