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Histologic Chorioamnionitis and Bronchopulmonary Dysplasia in Preterm Infants: The Epidemiologic Study on Low Gestational Ages 2 Cohort

The Journal of pediatrics, 2017-08, Vol.187, p.98-104.e3

2017

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SALL4 is a marker of the embryonal subtype of hepatoblastoma

Histopathology, 2013-09, Vol.63 (3), p.425-428

2013

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The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1268-1281

2007

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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Kidney international, 2022-05, Vol.101 (5), p.1039-1053

2022

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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Brain (London, England : 1878), 2012-02, Vol.135 (2), p.469-482

2012

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Prenatal and early postnatal morphogenesis and growth of human laryngotracheal structures

Journal of anatomy, 2008-08, Vol.213 (2), p.86-92

2008

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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

European journal of medical genetics, 2018-10, Vol.61 (10), p.585-595

2018

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Neonatal tracheal changes following in utero fetoscopic balloon tracheal occlusion in severe congenital diaphragmatic hernia

Journal of pediatric surgery, 2010-04, Vol.45 (4), p.687-692

2010

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Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

Journal of hepatology, 2005-08, Vol.43 (2), p.333-341

2005

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Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1252-1261

2015

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Cardiac fibroma: A rare cause of sudden child death

Annales de pathologie, 2015-10, Vol.35 (5), p.445-448

2015

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Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.572-577

2013

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Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

European journal of medical genetics, 2011-09, Vol.54 (5), p.e471-e477

2011

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Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Prenatal diagnosis, 2009-02, Vol.29 (2), p.187-189

2009

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Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Prenatal diagnosis, 2009-11, Vol.29 (11), p.1064-1065

2009

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Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases

Annales de pathologie, 2009-12, Vol.29 (6), p.481-484

2009

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Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn

European journal of pediatrics, 2002-05, Vol.161 (5), p.262-266

2002

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Pre- and postnatal diagnosis of limb anomalies: A series of 107 cases

American journal of medical genetics, 2004-02, Vol.124A (4), p.417-422

2004

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Thyroid alar cartilage graft in laryngoplasty: Anatomical study in premature and newborn babies

International journal of pediatric otorhinolaryngology, 2002-12, Vol.66 (3), p.259-263

2002

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Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

European journal of medical genetics, 2005-04, Vol.48 (2), p.199-206

2005

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Airway-like inflammation of minor salivary gland in bronchial asthma

American journal of respiratory and critical care medicine, 1994-09, Vol.150 (3), p.802-809

1994

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Histologic Chorioamnionitis and Bronchopulmonary Dysplasia in Preterm Infants: The Epidemiologic Study on Low Gestational Ages 2 Cohort

C5orf42 is the major gene responsible for OFD syndrome type VI

SALL4 is a marker of the embryonal subtype of hepatoblastoma

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Prenatal and early postnatal morphogenesis and growth of human laryngotracheal structures

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Neonatal tracheal changes following in utero fetoscopic balloon tracheal occlusion in severe congenital diaphragmatic hernia

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Cardiac fibroma: A rare cause of sudden child death

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome

Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Congenital pulmonary alveolar proteinosis related to a surfactant protein B deficiency: report of two cases

Alveolar capillary dysplasia: a cause of persistent pulmonary hypertension of the newborn

Pre- and postnatal diagnosis of limb anomalies: A series of 107 cases

Thyroid alar cartilage graft in laryngoplasty: Anatomical study in premature and newborn babies

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

Airway-like inflammation of minor salivary gland in bronchial asthma

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