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Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome

European journal of medical genetics, 2016-09, Vol.59 (9), p.459-462

2016

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The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf–Hirschhorn syndrome

Journal of medical genetics, 2008-08, Vol.45 (8), p.544-544

2008

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On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

American journal of medical genetics. Part C, Seminars in medical genetics, 2008-11, Vol.148C (4), p.257-269

2008

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Induction of FAS ligand expression in a human hepatoblastoma cell line by HCV core protein

Virus research, 2003-11, Vol.97 (2), p.103-110

2003

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Cell cycle perturbation in a human hepatoblastoma cell line constitutively expressing Hepatitis C virus core protein

Archives of virology, 2004-01, Vol.149 (1), p.61-74

2004

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Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

American journal of human genetics, 2003-03, Vol.72 (3), p.590-597

2003

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PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

European journal of human genetics : EJHG, 2003-01, Vol.11 (1), p.64-68

2003

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The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

American journal of medical genetics. Part A, 2007-05, Vol.143A (9), p.995-998

2007

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Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

Human molecular genetics, 2009-10, Vol.18 (20), p.3997-4006

2009

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Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

American journal of medical genetics, 2003-06, Vol.119A (2), p.177-179

2003

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The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.175-178

2005

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The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

Human genetics, 2006-02, Vol.118 (6), p.760-766

2006

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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.797-804

2004

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Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene dusters nor by inversion polymorphism on 4p16

Human genetics, 2008-04, Vol.123 (3), p.319-319

2008

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Trisomy 12p and monosomy 4p: phenotype-genotype correlation

Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.199

2009

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The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

American Journal of Medical Genetics Part A, 2007, Vol.143A (9), p.995-998

2007

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Effect of Helmet Noninvasive Ventilation vs High-Flow Nasal Oxygen on Days Free of Respiratory Support in Patients With COVID-19 and Moderate to Severe Hypoxemic Respiratory Failure: The HENIVOT Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2021-05, Vol.325 (17), p.1731

2021

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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1499-1504

2015

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Phenotypes of Patients with COVID-19 Who Have a Positive Clinical Response to Helmet Noninvasive Ventilation

American journal of respiratory and critical care medicine, 2022-02, Vol.205 (3), p.360-364

2022

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The Selective Phosphodiesterase-5 Inhibitor Tadalafil Induces Microvascular and Metabolic Effects in Type 2 Diabetic Postmenopausal Females

The journal of clinical endocrinology and metabolism, 2013-01, Vol.98 (1), p.245-254

2013

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Tadalafil increases muscle capillary recruitment and forearm glucose uptake in women with type 2 diabetes

Diabetologia, 2010-10, Vol.53 (10), p.2205-2208

2010

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Efficacy and safety comparative evaluation of orlistat and sibutramine treatment in hypertensive obese patients

Diabetes, obesity & metabolism, 2005-01, Vol.7 (1), p.47-55

2005

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Severe contact esophagitis in a patient taking crizotinib: A case report

Asia-Pacific journal of clinical oncology, 2015-06, Vol.11 (2), p.187-189

2015

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Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome

The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf–Hirschhorn syndrome

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

Induction of FAS ligand expression in a human hepatoblastoma cell line by HCV core protein

Cell cycle perturbation in a human hepatoblastoma cell line constitutively expressing Hepatitis C virus core protein

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene dusters nor by inversion polymorphism on 4p16

Trisomy 12p and monosomy 4p: phenotype-genotype correlation

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

A common allele of HLA is associated with asymptomatic SARS-CoV-2 infection

Effect of Helmet Noninvasive Ventilation vs High-Flow Nasal Oxygen on Days Free of Respiratory Support in Patients With COVID-19 and Moderate to Severe Hypoxemic Respiratory Failure: The HENIVOT Randomized Clinical Trial

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Phenotypes of Patients with COVID-19 Who Have a Positive Clinical Response to Helmet Noninvasive Ventilation

The Selective Phosphodiesterase-5 Inhibitor Tadalafil Induces Microvascular and Metabolic Effects in Type 2 Diabetic Postmenopausal Females

Tadalafil increases muscle capillary recruitment and forearm glucose uptake in women with type 2 diabetes

Efficacy and safety comparative evaluation of orlistat and sibutramine treatment in hypertensive obese patients

Severe contact esophagitis in a patient taking crizotinib: A case report

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