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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

PLoS genetics, 2016-03, Vol.12 (3), p.e1005894-e1005894

2016

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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

American journal of human genetics, 2012-12, Vol.91 (6), p.1135-1143

2012

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Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Acta neuropathologica, 2013-09, Vol.126 (3), p.427-442

2013

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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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Perinatal outcome of placental massive perivillous fibrin deposition: a case–control study

Prenatal diagnosis, 2017-04, Vol.37 (4), p.323-328

2017

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Histoanatomical structures of laryngeal atresia: Functional considerations

The Laryngoscope, 2020-01, Vol.130 (1), p.252-256

2020

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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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Radiographic features of osteogenesis imperfecta

Insights into imaging, 2013-08, Vol.4 (4), p.417-429

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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Developmental Mucin Gene Expression in the Human Respiratory Tract

American journal of respiratory cell and molecular biology, 1999-02, Vol.20 (2), p.209-218

1999

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Neonatal status epilepticus due to lamination disorder without significant cell death

Brain & development (Tokyo. 1979), 2011-04, Vol.33 (4), p.339-344

2011

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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. II. Duodenum and Liver, Gallbladder, and Pancreas

The journal of histochemistry and cytochemistry, 2000-12, Vol.48 (12), p.1667-1676

2000

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Is chronic histiocytic intervillositis a severe placental disease? A case-control study

Placenta (Eastbourne), 2020-02, Vol.91, p.31-36

2020

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SALL4 expression in gestational trophoblastic tumors: a useful tool to distinguish choriocarcinoma from placental site trophoblastic tumor and epithelioid trophoblastic tumor

Human pathology, 2016-08, Vol.54, p.121-126

2016

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Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. I. Stomach: A Relationship to Gastric Carcinoma

The journal of histochemistry and cytochemistry, 2000-12, Vol.48 (12), p.1657-1665

2000

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Determination of Endotracheal Tube Size in a Perinatal Population

Anesthesiology (Philadelphia), 2006-05, Vol.104 (5), p.954-960

2006

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Risk factors for spontaneous hematoma of the umbilical cord: A case-control study

Placenta (Eastbourne), 2020-09, Vol.99, p.152-156

2020

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A case–control study of placental lesions associated with pre-eclampsia

International journal of gynecology and obstetrics, 2013-02, Vol.120 (2), p.165-168

2013

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From normal respiratory mucosa to epidermoid carcinoma: Expression of human mucin genes

International journal of cancer, 2000-04, Vol.86 (2), p.162-168

2000

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COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

Prenatal diagnosis, 2022-05, Vol.42 (5), p.601-610

2022

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Association of Chorioamnionitis with Cerebral Palsy at Two Years after Spontaneous Very Preterm Birth: The EPIPAGE-2 Cohort Study

The Journal of pediatrics, 2020-07, Vol.222, p.71-78.e6

2020

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p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 cases

Human pathology, 2020-07, Vol.101, p.18-30

2020

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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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Curative surgery for placental site trophoblastic tumors

International journal of gynecology and obstetrics, 2015-07, Vol.130 (1), p.84-85

2015

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

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

Perinatal outcome of placental massive perivillous fibrin deposition: a case–control study

C5orf42 is the major gene responsible for OFD syndrome type VI

Histoanatomical structures of laryngeal atresia: Functional considerations

SALL4 is a marker of the embryonal subtype of hepatoblastoma

Radiographic features of osteogenesis imperfecta

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

Developmental Mucin Gene Expression in the Human Respiratory Tract

Neonatal status epilepticus due to lamination disorder without significant cell death

Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. II. Duodenum and Liver, Gallbladder, and Pancreas

Is chronic histiocytic intervillositis a severe placental disease? A case-control study

SALL4 expression in gestational trophoblastic tumors: a useful tool to distinguish choriocarcinoma from placental site trophoblastic tumor and epithelioid trophoblastic tumor

Developmental Mucin Gene Expression in the Gastroduodenal Tract and Accessory Digestive Glands. I. Stomach: A Relationship to Gastric Carcinoma

Determination of Endotracheal Tube Size in a Perinatal Population

Risk factors for spontaneous hematoma of the umbilical cord: A case-control study

A case–control study of placental lesions associated with pre-eclampsia

From normal respiratory mucosa to epidermoid carcinoma: Expression of human mucin genes

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

Association of Chorioamnionitis with Cerebral Palsy at Two Years after Spontaneous Very Preterm Birth: The EPIPAGE-2 Cohort Study

p57-discordant villi in hydropic products of conception: a clinicopathological study of 70 cases

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

Curative surgery for placental site trophoblastic tumors

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