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Microcephaly Syndromes

Seminars in pediatric neurology, 2007-09, Vol.14 (3), p.118-127

Abuelo, Dianne, MD

2007

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Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1241-1248

2009

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695

2006

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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Clinical significance of chimerism

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-05, Vol.151C (2), p.148-151

Abuelo, Dianne

2009

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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Nature genetics, 2007-12, Vol.39 (12), p.1488-1493

2007

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Clinical Significance of Chimerism: The Genetics of Twinning: From Splitting Eggs to Breaking Paradigms

American journal of medical genetics. Part C, Seminars in medical genetics, 2009, Vol.151 (2), p.148-151

ABUELO, Dianne

2009

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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy

Diabetes (New York, N.Y.), 2004-10, Vol.53 (10), p.2713-2718

2004

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Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Human genetics, 2001-02, Vol.108 (2), p.109-115

2001

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.754-761

2012

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Genetic syndromes: from clinical suspicion to referral to diagnosis

Pediatric annals, 2009-08, Vol.38 (8), p.419-425

2009

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Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2

Diabetes (New York, N.Y.), 2004-10, Vol.53 (10), p.2713-2718

2004

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Point of view: Marfan syndrome: be aware of life-threatening complications

Medicine and health, Rhode Island, 2002-02, Vol.85 (2), p.70

Abuelo, Dianne N

2002

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Familial thoracic aortic aneurysms and dissections : Genetic heterogeneity with a major locus mapping to 5q13-14

Circulation (New York, N.Y.), 2001-05, Vol.103 (20), p.2461-2468

2001

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Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, Third Edition

Journal of developmental and behavioral pediatrics, 2002-04, Vol.23 (2), p.117-118

Abuelo, Dianne

2002

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Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes

Pediatrics (Evanston), 2007-12, Vol.120 (6), p.e1512-e1519

2007

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A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.50-58

2012

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Adolescents and genetic testing: what do they think about it?

Journal of adolescent health, 2003-12, Vol.33 (6), p.489-494

2003

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Long-Term Effect of Sulfonylura in Permanent Neonatal Diabetes Due to Mutations in KCNJ11 Encoding Kir6.2

Diabetes (New York, N.Y.), 2005-06, Vol.54, p.A293

2005

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The role of new genetic technology in investigating autism and developmental delay

Medicine and health, Rhode Island, 2011-05, Vol.94 (5), p.131, 134

2011

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Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients

Journal of pediatric genetics (Birmingham, Ala.), 2013-03, Vol.2 (1), p.025-031

2013

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Pigmentary mosaicism and mosaic Turner syndrome

Journal of the American Academy of Dermatology, 2005-05, Vol.52 (5), p.918-919

2005

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Genetic evaluation and counseling for craniofacial anomalies

Medicine and health, Rhode Island, 2002-12, Vol.85 (12), p.373

Abuelo, Dianne

2002

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Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009, Vol.18 (12), p.2149-2165

2009

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Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

The Journal of pediatrics, 1995-07, Vol.127 (1), p.82-87

1995

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Microcephaly Syndromes

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Clinical significance of chimerism

Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections

Clinical Significance of Chimerism: The Genetics of Twinning: From Splitting Eggs to Breaking Paradigms

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Genetic syndromes: from clinical suspicion to referral to diagnosis

Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2

Point of view: Marfan syndrome: be aware of life-threatening complications

Familial thoracic aortic aneurysms and dissections : Genetic heterogeneity with a major locus mapping to 5q13-14

Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, Third Edition

Major congenital anomalies place extremely low birth weight infants at higher risk for poor growth and developmental outcomes

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

Adolescents and genetic testing: what do they think about it?

Long-Term Effect of Sulfonylura in Permanent Neonatal Diabetes Due to Mutations in KCNJ11 Encoding Kir6.2

The role of new genetic technology in investigating autism and developmental delay

Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients

Pigmentary mosaicism and mosaic Turner syndrome

Genetic evaluation and counseling for craniofacial anomalies

Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

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