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Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

The New England journal of medicine, 2008-02, Vol.358 (6), p.592-604

2008

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Autism spectrum features in Smith-Magenis syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.456-462

2010

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Auditory Phenotype of Smith-Magenis Syndrome

Journal of speech, language, and hearing research, 2017-04, Vol.60 (4), p.1076-1087

2017

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Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene

The American journal of pathology, 2009-02, Vol.174 (2), p.534-540

2009

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Opposite effects on facial morphology due to gene dosage sensitivity

Human genetics, 2014-09, Vol.133 (9), p.1117-1125

2014

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Discriminating Power of Localized Three-Dimensional Facial Morphology

American journal of human genetics, 2005-12, Vol.77 (6), p.999-1010

2005

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Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

The Laryngoscope, 2011-10, Vol.121 (10), p.2250-2255

2011

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Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

Pediatric neurology, 2009-10, Vol.41 (4), p.250-258

2009

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A complete set of human telomeric probes and their clinical application

Nature genetics, 1996-09, Vol.14 (1), p.86-89

1996

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Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

American journal of medical genetics, 1998-03, Vol.81 (2), p.179-185

1998

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Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency

The American journal of pathology, 2009, Vol.174 (2), p.534-540

2009

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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

American journal of human genetics, 2020-09, Vol.107 (3), p.564-574

2020

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Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.224-236

2019

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

American journal of human genetics, 2022-02, Vol.109 (2), p.361-372

2022

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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype

Human mutation, 2017-12, Vol.38 (12), p.1774-1785

2017

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Variegation of autism related traits across seven neurogenetic disorders

Translational psychiatry, 2022-04, Vol.12 (1), p.149-149, Article 149

2022

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

Human genetics, 2017-04, Vol.136 (4), p.409-420

2017

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A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.490-497

2023

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Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome

Obesity research & clinical practice, 2024-07, Vol.18 (4), p.301-307

2024

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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR

Genetic testing, 2008-03, Vol.12 (1), p.67-73

2008

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.161-170

2014

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Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Pediatric neurology, 2006-05, Vol.34 (5), p.337-350

2006

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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

PloS one, 2011-08, Vol.6 (8), p.e22861

2011

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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2383-2388

2016

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Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.463-468

2010

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Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Autism spectrum features in Smith-Magenis syndrome

Auditory Phenotype of Smith-Magenis Syndrome

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency: Compound Heterozygosity for Mutations in the GGCX Gene

Opposite effects on facial morphology due to gene dosage sensitivity

Discriminating Power of Localized Three-Dimensional Facial Morphology

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

A complete set of human telomeric probes and their clinical application

Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype

Variegation of autism related traits across seven neurogenetic disorders

Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome

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