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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Journal of medical genetics, 2006-03, Vol.43 (3), p.211-217

2006

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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Nature genetics, 2005-09, Vol.37 (9), p.964-968

2005

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Fetal phenotypes in otopalatodigital spectrum disorders

Clinical genetics, 2016-03, Vol.89 (3), p.371-377

2016

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Dynamics of Thymus-Colonizing Cells during Human Development

Immunity (Cambridge, Mass.), 2006-02, Vol.24 (2), p.217-230

2006

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Safety study of Ciprofloxacin in newborn mice

Regulatory toxicology and pharmacology, 2016-02, Vol.74, p.161-169

2016

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Paradoxic activation of the renin-angiotensin system in twin-twin transfusion syndrome : An explanation for cardiovascular disturbances in the recipient

Pediatric research, 2005-10, Vol.58 (4), p.685-688

2005

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Molecular characterization of early human T/NK and B-lymphoid progenitor cells in umbilical cord blood

Blood, 2004-12, Vol.104 (13), p.3918-3926

2004

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Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

The American journal of pathology, 2000-02, Vol.156 (2), p.629-636

2000

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Biometry of face and brain in fetuses with trisomy 21

Pediatric research, 2006, Vol.59 (1), p.33-38

2006

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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

American journal of human genetics, 2005-03, Vol.76 (3), p.493-504

2005

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Developmental toxicity of the angiotensin II type 1 receptor antagonists during human pregnancy: a report of 10 cases

BJOG : an international journal of obstetrics and gynaecology, 2005-06, Vol.112 (6), p.710-712

2005

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Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction

The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1788-1794

2001

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Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia

The Journal of biological chemistry, 1998-05, Vol.273 (21), p.13007-13014

1998

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Organ weights in human fetuses after formalin fixation: standards by gestational age and body weight

Pediatric and developmental pathology, 2002-11, Vol.5 (6), p.559-578

2002

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Contribution of Fetal MR Imaging in the Evaluation of Cerebral Ischemic Lesions

American Journal of Neuroradiology, 2004-10, Vol.25 (9), p.1563-1568

2004

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The Distribution of SMN Protein Complex in Human Fetal Tissues and Its Alteration in Spinal Muscular Atrophy

Human molecular genetics, 1998-11, Vol.7 (12), p.1927-1933

1998

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Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome

International journal of developmental neuroscience, 2005-08, Vol.23 (5), p.475-484

2005

Volltextzugriff (PDF)

MR imaging of fetal cerebral anomalies

Pediatric radiology, 1998-04, Vol.28 (4), p.212-222

1998

Volltextzugriff (PDF)

Clinical variability in patients with Apert's syndrome

Journal of neurosurgery, 1999-03, Vol.90 (3), p.443

1999

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Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1)

Human molecular genetics, 1996-04, Vol.5 (4), p.509-512

1996

Volltextzugriff (PDF)

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Nature genetics, 1995-05, Vol.10 (1), p.11-12

1995

Volltextzugriff (PDF)

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

Nature genetics, 1993-06, Vol.4 (2), p.147-153

1993

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C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.16-22

2006

Volltextzugriff (PDF)

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Human molecular genetics, 1999-09, Vol.8 (9), p.1683-1689

1999

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Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature

Prenatal diagnosis, 2004-07, Vol.24 (7), p.504-507

2004

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Fetal phenotypes in otopalatodigital spectrum disorders

Dynamics of Thymus-Colonizing Cells during Human Development

Safety study of Ciprofloxacin in newborn mice

Paradoxic activation of the renin-angiotensin system in twin-twin transfusion syndrome : An explanation for cardiovascular disturbances in the recipient

Molecular characterization of early human T/NK and B-lymphoid progenitor cells in umbilical cord blood

Twin-to-Twin Transfusion Syndrome : Role of the Fetal Renin-Angiotensin System

Biometry of face and brain in fetuses with trisomy 21

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Developmental toxicity of the angiotensin II type 1 receptor antagonists during human pregnancy: a report of 10 cases

Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction

Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia

Organ weights in human fetuses after formalin fixation: standards by gestational age and body weight

Contribution of Fetal MR Imaging in the Evaluation of Cerebral Ischemic Lesions

The Distribution of SMN Protein Complex in Human Fetal Tissues and Its Alteration in Spinal Muscular Atrophy

Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome

MR imaging of fetal cerebral anomalies

Clinical variability in patients with Apert's syndrome

Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1)

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature

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