Citation Impact
Citing Papers
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease: Executive Summary
2014 Standout
The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives
1999 StandoutNature
HIF Hydroxylase Pathways in Cardiovascular Physiology and Medicine
2015 StandoutNobel
MODERATE ALCOHOL INTAKE IN PREGNANCY AND THE RISK OF SPONTANEOUS ABORTION
2002
Developmental neurotoxicity of industrial chemicals
2006 Standout
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
1993
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies
2003
The warfarin embryopathy: A rat model showing maxillonasal hypoplasia and other skeletal disturbances
1992
Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice
1997 StandoutNobel
Synthesis and surface engineering of iron oxide nanoparticles for biomedical applications
2004 Standout
Ulcerative Colitis
2011 Standout
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
1995
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Regulation of microRNA biogenesis
2014 Standout
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
2004 StandoutNature
Hyperthermia and birth defects
1995
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
1994 Standout
Multifunctional strands in tight junctions
2001 Standout
Defects in enteric innervation and kidney development in mice lacking GDNF
1996 StandoutNature
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Ethanol‐induced teratogenesis: Free radical damage as a possible mechanism
1995
Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome
1997
Neural-Tube Defects
1999 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Teratogen update: Gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans
1998
The effect of hypoxia in development
2007
REPuter: the manifold applications of repeat analysis on a genomic scale
2001 Standout
Transient congenital hypoparathyroidism: Resolution and recurrence in chromosome 22q11 deletion
1996
Velo‐cardio‐facial syndrome: A review of 120 patients
1993
Anticoagulation of Pregnant Women With Mechanical Heart Valves
2003
Mitochondria: In Sickness and in Health
2012 Standout
A single day of alcohol exposure during the brain growth spurt induces brain weight restriction and cerebellar Purkinje cell loss
1990
Adverse Drug Events Related to Dosage Forms and Delivery Systems
1996
Ulcerative colitis
2012 Standout
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 Standout
Mutations of theRET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
1997
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
1999
Defective Vascularization of HIF-1α-Null Embryos Is Not Associated with VEGF Deficiency but with Mesenchymal Cell Death
1999 StandoutNobel
European evidence-based Consensus on the management of ulcerative colitis: Special situations
2008
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
1994
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
1994 StandoutNature
Ulcerative colitis
2016 Standout
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
1994 Standout
GDNF signalling through the Ret receptor tyrosine kinase
1996 StandoutNature
The serum protein α2–Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification
2003 Standout
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
1994 Nature
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
1994 Standout
Mutations of the RET proto-oncogene in Hirschsprung's disease
1994 Nature
Recurrent miscarriage
2006 Standout
Cellular and developmental control of O2 homeostasis by hypoxia-inducible factor 1α
1998 StandoutNobel
Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
1994 Standout
A census of human cancer genes
2004 Standout
Renal agenesis and the absence of enteric neurons in mice lacking GDNF
1996 StandoutNature
Distinctcis-Essential Modules Direct the Time–Space Pattern of thePax6Gene Activity
1999 StandoutNobel
Experimental fetal alcohol syndrome: Proposed pathogenic basis for a variety of associated facial and brain anomalies
1992
Retinoids Regulate the Repairing Process of the Podocytes in Puromycin Aminonucleoside-induced Nephrotic Rats
2003 StandoutNobel
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
1994
Oral anticoagulant treatment: friend or foe in cardiovascular disease?
2004
Gut Microbiota in Health and Disease
2010 Standout
Single missense mutation in the tyrosine kinasecatalytic domain of the RET protooncogene is associated with multiple endocrineneoplasia type 2B.
1994
Neurotrophins: Roles in Neuronal Development and Function
2001 Standout
Teratogens and craniofacial malformations: relationships to cell death
1988
W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
1995 StandoutNature
Chromosome 22q11 deletion presenting as the Potter sequence.
1997
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Ethanol-Induced Apoptotic Neurodegeneration and Fetal Alcohol Syndrome
2000 StandoutScience
European evidence-based Consensus on the diagnosis and management of ulcerative colitis: Definitions and diagnosis
2008
Brain amino acid abnormalities in pyruvate carboxylase deficiency
1984
ACC/AHA 2006 Guidelines for the Management of Patients With Valvular Heart Disease
2006 Standout
Mobius syndrome redefined
2003 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
Autism and clostridium tetani
1998
Regulation of Mammalian O2Homeostasis by Hypoxia-Inducible Factor 1
1999 StandoutNobel
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
1997
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
1995
Magnetic Resonance Imaging of Brain Anomalies in Fetal Alcohol Syndrome
1997
Toluene embryopathy
1985
Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice.
1994 Standout
Vascular Calcification
2008 Standout
The Structure of Haplotype Blocks in the Human Genome
2002 StandoutScience
Small eyes (Sey) : a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse
1986
Retinoids in Embryonal Development
2000
Works of Anthony Lipson being referenced
Binder's syndrome due to prenatal vitamin K deficiency: A theory of pathogenesis
1992
Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure
1997
Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects
1988
Prenatal exposure to phenytoin, facial development, and a possible role for vitamin K
1995
Moebius syndrome: Animal model—human correlations and evidence for a brainstem vascular etiology
1989
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
1993
Two cases of maternal antenatal splenic rupture and hypotension associated with Moebius syndrome and cerebral palsy in offspring
1996
Hirschsprung disease in the offspring of mothers exposed to hyperthermia during pregnancy
1988
Mesalazine in childhood inflammatory bowel disease
1989
Fetal brain damage in the rat following prenatal exposure to cocaine
1991
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
1997
INFECTING DOSE OF SALMONELLA
1976
Central nervous system tolerance to high blood alcohol levels
1986
Teratogenesis after acute alcohol exposure in cultured rat embryos
1983
Dihydropteridine reductase deficiency: Non‐response to oral tetrahydrobiopterin load test
1983
Porcine pancreatin as a source of salmonella infection in children with cystic fibrosis.
1977
Some teratogenic properties of ethanol and acetaldehyde in C57BL/6J mice: Implications for the study of the fetal alcohol syndrome
1983
Möbius' Syndrome: Features and Etiology
1998
Uterine trauma and limb defects
1987
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
1991
Alcohol and congenital heart defects: an experimental study in mice
1984
Three‐generation transmission of Hirschsprung's disease
1987
Maternal hyperphenylalaninemia fetal effects
1984