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Blood Cytokines during the Perinatal Period in Very Preterm Infants: Relationship of Inflammatory Response and Bronchopulmonary Dysplasia

The Journal of pediatrics, 2009, Vol.154 (1), p.39-43.e3

2009

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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

American journal of human genetics, 2016-09, Vol.99 (3), p.683-694

2016

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Nature genetics, 2008-02, Vol.40 (2), p.155-157

2008

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Inherited Susceptibility to Uterine Leiomyomas and Renal Cell Cancer

Proceedings of the National Academy of Sciences - PNAS, 2001-03, Vol.98 (6), p.3387-3392

2001

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Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

American journal of human genetics, 2004-01, Vol.74 (1), p.153-159

2004

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Population cohort associating chorioamnionitis, cord inflammatory cytokines and neurologic outcome in very preterm, extremely low birth weight infants

Pediatric research, 2006-03, Vol.59 (3), p.478-483

2006

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Radiation-induced meningiomas: a shadow in the success story of childhood leukemia

Neuro-oncology (Charlottesville, Va.), 2009-10, Vol.11 (5), p.543-549

2009

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Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

Molecular cell, 1998-03, Vol.1 (4), p.575-582

1998

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Cord immunoproteins as predictors of respiratory outcome in preterm infants

American journal of obstetrics and gynecology, 2009, Vol.200 (1), p.100.e1-100.e8

2009

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Conventional renal cancer in a patient with fumarate hydratase mutation

Human pathology, 2007-05, Vol.38 (5), p.793-796

2007

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Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland-An epidemiological study

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1834-1839

2006

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Collagenase‐3 (MMP‐13) is expressed by hypertrophic chondrocytes, periosteal cells, and osteoblasts during human fetal bone development

Developmental dynamics, 1997-03, Vol.208 (3), p.387-397

1997

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Estrogen Receptors and Estrogen-Metabolizing Enzymes in Human Ovaries during Fetal Development

The journal of clinical endocrinology and metabolism, 2005-06, Vol.90 (6), p.3752-3756

2005

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Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

American journal of human genetics, 2012-03, Vol.90 (3), p.540-549

2012

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Northern Epilepsy: A Novel Form of Neuronal Ceroid-Lipofuscinosis

Brain pathology (Zurich, Switzerland), 2000-04, Vol.10 (2), p.215-222

2000

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Transcription Factor GATA-6, Cell Proliferation, Apoptosis, and Apoptosis-Related Proteins Bcl-2 and Bax in Human Fetal Testis

The journal of clinical endocrinology and metabolism, 2003-04, Vol.88 (4), p.1858-1865

2003

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

Brain (London, England : 1878), 2007-11, Vol.130 (11), p.3032-3040

2007

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Distribution and mRNA Expression of Tenascin-C in Developing Human Lung

American journal of respiratory cell and molecular biology, 2001-09, Vol.25 (3), p.341-346

2001

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Expression and Localization of SWAP-70 in Human Fetomaternal Interface and Placenta During Tubal Pregnancy and Normal Placentation

The journal of histochemistry and cytochemistry, 2007-07, Vol.55 (7), p.701-708, Article 701

2007

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Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors

Matrix biology, 2004-06, Vol.23 (3), p.153-161

2004

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Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

American journal of human genetics, 1998-08, Vol.63 (2), p.506-516

1998

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Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas

Journal of neuropathology and experimental neurology, 2017-10, Vol.76 (10), p.848-853

2017

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Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

Brain (London, England : 1878), 2008-11, Vol.131 (11), p.2841-2850

2008

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Blood Cytokines during the Perinatal Period in Very Preterm Infants: Relationship of Inflammatory Response and Bronchopulmonary Dysplasia

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Inherited Susceptibility to Uterine Leiomyomas and Renal Cell Cancer

Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

Population cohort associating chorioamnionitis, cord inflammatory cytokines and neurologic outcome in very preterm, extremely low birth weight infants

Radiation-induced meningiomas: a shadow in the success story of childhood leukemia

Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

Cord immunoproteins as predictors of respiratory outcome in preterm infants

Conventional renal cancer in a patient with fumarate hydratase mutation

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland-An epidemiological study

Collagenase‐3 (MMP‐13) is expressed by hypertrophic chondrocytes, periosteal cells, and osteoblasts during human fetal bone development

Estrogen Receptors and Estrogen-Metabolizing Enzymes in Human Ovaries during Fetal Development

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Northern Epilepsy: A Novel Form of Neuronal Ceroid-Lipofuscinosis

Transcription Factor GATA-6, Cell Proliferation, Apoptosis, and Apoptosis-Related Proteins Bcl-2 and Bax in Human Fetal Testis

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

Distribution and mRNA Expression of Tenascin-C in Developing Human Lung

Expression and Localization of SWAP-70 in Human Fetomaternal Interface and Placenta During Tubal Pregnancy and Normal Placentation

Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

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