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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502

2006

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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1108-1110

2006

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Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

American journal of medical genetics. Part A, 2023-10, Vol.191 (10), p.2656-2663

2023

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A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1976-1980

2011

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2394-2399

2016

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2406-2410

2015

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Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2545-2550

2017

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Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2862-2866

2018

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.337-342

2008

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Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.860-864

2013

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Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2736-2742

2017

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Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.653-656

2015

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Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2587-2590

2012

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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.620-626

2014

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Reply to 5q35 duplication and Hunter-McAlpine syndrome: Missing the link

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.804-804

2010

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A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1915-1922

2013

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Characterization of interstitial Xp duplications in two families by tiling path array CGH

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.197-203

2008

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Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1709-1712

2012

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12q24.33 deletion: Report of a patient with intellectual disability and review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1409-1413

2013

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Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3067-3070

2011

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Christianson syndrome in a patient with an interstitial Xq26.3 deletion

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2771-2774

2011

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Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.172-178

2007

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Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1544-1549

2009

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A newly recognized autosomal recessive syndrome affecting neurologic function and vision

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1207-1213

2013

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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability

Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome

Chromosome deletions in 13q33-34: Report of four patients and review of the literature

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Reply to 5q35 duplication and Hunter-McAlpine syndrome: Missing the link

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

Characterization of interstitial Xp duplications in two families by tiling path array CGH

Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate

12q24.33 deletion: Report of a patient with intellectual disability and review of the literature

Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

Christianson syndrome in a patient with an interstitial Xq26.3 deletion

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

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