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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Human genetics, 2011-10, Vol.130 (4), p.517-528

2011

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P525: Laboratory utilization management system assists with familial cytogenetic testing: 3 case examples

Genetics in Medicine Open, 2023, Vol.1 (1), p.100572, Article 100572

2023

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P544: 3q28 microdeletions involving TP63 are associated with cleft lip/palate in a size- and position-dependent manner

Genetics in Medicine Open, 2023, Vol.1 (1), p.100591, Article 100591

2023

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Nature genetics, 2007-04, Vol.39 (4), p.451-453

2007

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (4), p.380-386

2017

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Clinical Comparison of Overlapping Deletions of 19p13.3

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1110-1116

2013

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Molecular studies of liver disease in erythropoietic protoporphyria

Journal of clinical gastroenterology, 2005-04, Vol.39 (4 Suppl 2), p.S167-S175

2005

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UPD detection using homozygosity profiling with a SNP genotyping microarray

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.757-768

2011

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6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1848-1857

2017

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Response to Growth Hormone Treatment in a Patient with InsulinLike Growth Factor 1 Receptor Deletion

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (4), p.380

2017

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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1 - Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Cancer genetics, 2016-05, Vol.209 (5), p.229-229

2016

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Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1755-1758

2013

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Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.695-700

2015

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Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Cancer genetics, 2016-05, Vol.209 (5), p.248-248

2016

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Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Cancer genetics, 2016-05, Vol.209 (5), p.229-229

2016

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59 - Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Cancer genetics, 2016-05, Vol.209 (5), p.248-248

2016

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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.822-828

2013

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Biochemical Abnormality in Erythropoietic Protoporphyria

Journal of pediatric gastroenterology and nutrition, 2006-07, Vol.43, p.S36-S40

2006

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Biochemical Abnormality in Erythropoietic Protoporphyria: Cause and Consequences

Journal of pediatric gastroenterology and nutrition, 2006-07, Vol.43 (1 Suppl 1), p.S36-S40

2006

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Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

Molecular genetics and metabolism, 2003-09, Vol.80 (1), p.196-206

2003

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Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease

Cellular and molecular biology (Noisy-le-Grand, France), 2002-02, Vol.48 (1), p.83

2002

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Inheritance in erythropoietic protoporphyria: Molecular basis of variable phenotypes observed in families

Risheg, Hiba

2003

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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

American Journal of Medical Genetics Part A, 2013, Vol.161A (4), p.822-828

2013

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

P525: Laboratory utilization management system assists with familial cytogenetic testing: 3 case examples

P544: 3q28 microdeletions involving TP63 are associated with cleft lip/palate in a size- and position-dependent manner

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

Clinical Comparison of Overlapping Deletions of 19p13.3

Molecular studies of liver disease in erythropoietic protoporphyria

UPD detection using homozygosity profiling with a SNP genotyping microarray

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

Response to Growth Hormone Treatment in a Patient with InsulinLike Growth Factor 1 Receptor Deletion

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

1 - Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)

59 - Prenatal SNP Microarray Analysis and Parental Follow-up of 16q24.1 Deletions That Include the FOXF1 Gene

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Biochemical Abnormality in Erythropoietic Protoporphyria

Biochemical Abnormality in Erythropoietic Protoporphyria: Cause and Consequences

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease

Inheritance in erythropoietic protoporphyria: Molecular basis of variable phenotypes observed in families

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

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