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Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

Pediatric research, 2009-06, Vol.65 (6), p.681-685

2009

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MADD-2, a Homolog of the Opitz Syndrome Protein MID1, Regulates Guidance to the Midline through UNC-40 in Caenorhabditis elegans

Developmental cell, 2010-06, Vol.18 (6), p.961-972

2010

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Anesthetic considerations in Smith-Lemli-Opitz syndrome

Canadian journal of anesthesia, 2000-06, Vol.47 (6), p.556-561

2000

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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.513-519

2011

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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

American journal of human genetics, 1998-08, Vol.63 (2), p.329-338

1998

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Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications

Human molecular genetics, 2010-04, Vol.19 (7), p.1347-1357

2010

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MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Nature genetics, 2001-11, Vol.29 (3), p.287-294

2001

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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Human molecular genetics, 2001-03, Vol.10 (6), p.555-564

2001

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Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome

British journal of dermatology (1951), 1999-09, Vol.141 (3), p.406-414

1999

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First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

Pediatric research, 1996-05, Vol.39 (5), p.816-819

1996

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Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome

American journal of medical genetics, 1995-09, Vol.58 (4), p.374-376

1995

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Opitz (BBB/G) syndrome: Oral manifestations

American journal of medical genetics, 1992-06, Vol.43 (3), p.595-601

1992

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Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

American journal of medical genetics, 2000-11, Vol.95 (2), p.174-177

2000

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Guidelines for the diagnosis and treatment of pulmonary hypertension

European heart journal, 2009-10, Vol.30 (20), p.2493-2537

2009

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Echocardiography as an outcome measure in scleroderma-related pulmonary arterial hypertension: a systematic literature analysis by the EPOSS group

Journal of rheumatology, 2010-01, Vol.37 (1), p.105

2010

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Validation of the 6 min walk test according to the OMERACT filter: a systematic literature review by the EPOSS-OMERACT group

Annals of the rheumatic diseases, 2010-07, Vol.69 (7), p.1360-1363

2010

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Improvements in Transcatheter Aortic Valve Implantation Outcomes in Lower Surgical Risk Patients: A Glimpse Into the Future

Journal of the American College of Cardiology, 2012-01, Vol.59 (3), p.280-287

2012

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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

American journal of human genetics, 2011-07, Vol.89 (1), p.28-43

2011

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Sleeve resections with unprotected bronchial anastomoses are safe even after neoadjuvant therapy

European journal of cardio-thoracic surgery, 2012-07, Vol.42 (1), p.77-81

2012

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Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2008-04, Vol.146A (7), p.904-909

2008

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Syndrome identification based on 2D analysis software

European journal of human genetics : EJHG, 2006-10, Vol.14 (10), p.1082-1089

2006

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Exercise Training for Rehabilitation and Secondary Prevention of Falls in Geriatric Patients with a History of Injurious Falls

Journal of the American Geriatrics Society, 2001-01, Vol.49 (1), p.10-20

2001

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Deletion of the alternatively spliced fibronectin EIIIA domain in mice reduces atherosclerosis

Blood, 2004-07, Vol.104 (1), p.11-18

2004

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Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

MADD-2, a Homolog of the Opitz Syndrome Protein MID1, Regulates Guidance to the Midline through UNC-40 in Caenorhabditis elegans

Anesthetic considerations in Smith-Lemli-Opitz syndrome

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications

MID1 , mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome

Measures of response in clinical trials of systemic sclerosis: the Combined Response Index for Systemic Sclerosis (CRISS) and Outcome Measures in Pulmonary Arterial Hypertension related to Systemic Sclerosis (EPOSS)

Opitz (BBB/G) syndrome: Oral manifestations

Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with β-thalassemia

Guidelines for the diagnosis and treatment of pulmonary hypertension

Echocardiography as an outcome measure in scleroderma-related pulmonary arterial hypertension: a systematic literature analysis by the EPOSS group

Validation of the 6 min walk test according to the OMERACT filter: a systematic literature review by the EPOSS-OMERACT group

Improvements in Transcatheter Aortic Valve Implantation Outcomes in Lower Surgical Risk Patients: A Glimpse Into the Future

Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

Sleeve resections with unprotected bronchial anastomoses are safe even after neoadjuvant therapy

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Syndrome identification based on 2D analysis software

Exercise Training for Rehabilitation and Secondary Prevention of Falls in Geriatric Patients with a History of Injurious Falls

Deletion of the alternatively spliced fibronectin EIIIA domain in mice reduces atherosclerosis

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