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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Clinical genetics, 2023-07, Vol.104 (1), p.100-106

2023

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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2819-2824

2022

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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.856-865

2021

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

American journal of medical genetics. Part A, 2020-09, Vol.182 (9), p.2068-2076

2020

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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2715-2721

2020

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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

European journal of endocrinology, 2021-11, Vol.185 (5), p.691-705

2021

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Estreñimiento crónico debido a síndrome de Currarino

Anales de pediatría (Barcelona, Spain : 2003), 2020-11, Vol.93 (5), p.349-351

2020

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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.628-631

2020

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Congenital metastatic neuroblastoma with placental involvement as a rare cause of non‐immune fetal hydrops

The journal of obstetrics and gynaecology research, 2024-08, Vol.50 (8), p.1402-1407

2024

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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Frontiers in genetics, 2023-01, Vol.13, p.1089417

2023

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Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia

Frontiers in pediatrics, 2023-01, Vol.10, p.1093880-1093880

2023

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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

European journal of medical genetics, 2021-05, Vol.64 (5), p.104198-104198, Article 104198

2021

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Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2

European journal of medical genetics, 2021-10, Vol.64 (10), p.104307-104307, Article 104307

2021

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Pancreatic cystosis in children and young adults with cystic fibrosis: sonographic, CT, and MRI findings

American journal of roentgenology (1976), 2005-04, Vol.184 (4), p.1305-1309

2005

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Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus

Mediterranean journal of rheumatology, 2022-12, Vol.33 (4), p.459

2022

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

The journal of clinical endocrinology and metabolism, 2020-08, Vol.105 (8), p.1-2666

2020

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Chronic constipation due to Currarino syndrome

Anales de Pediatría, 2020-11, Vol.93 (5), p.349-351

2020

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High-Resolution Computed Tomography Patterns of Organizing Pneumonia

Archivos de bronconeumología (English ed.), 2006-08, Vol.42 (8), p.413-416

2006

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Patrones de presentación de la neumonía organizada mediante tomografía computarizada de alta resolución

Archivos de bronconeumología, 2006, Vol.42 (8), p.413-416

2006

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Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children

European journal of pediatric surgery, 2018-02, Vol.28 (1), p.34-38

2018

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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Frontiers in genetics, 2022, Vol.13, p.1089417-1089417

2022

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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

American journal of medical genetics. Part A, 2020, Vol.182 (11), p.2715-2721

2020

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Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

American journal of medical genetics. Part A, 2022, Vol.188 (9), p.2819-2824

2022

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

Estreñimiento crónico debido a síndrome de Currarino

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

Congenital metastatic neuroblastoma with placental involvement as a rare cause of non‐immune fetal hydrops

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2

Pancreatic cystosis in children and young adults with cystic fibrosis: sonographic, CT, and MRI findings

Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

Chronic constipation due to Currarino syndrome

High-Resolution Computed Tomography Patterns of Organizing Pneumonia

Patrones de presentación de la neumonía organizada mediante tomografía computarizada de alta resolución

Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

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