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Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease

American journal of kidney diseases, 2018-12, Vol.72 (6), p.866-872

2018

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Global medical genetics, 2024-01, Vol.11 (1), p.100-112

2024

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Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2788-2794

2009

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Prenatal Diagnosis: Cases and Clinical Challenges

1, 2011

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Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1605-1615

2011

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Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

Molecular genetics and metabolism, 2021-04, Vol.132, p.S102-S103

2021

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eP154 - Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

Molecular genetics and metabolism, 2021-04, Vol.132, p.S102-S103

2021

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Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

Journal of child neurology, 2009-05, Vol.24 (5), p.618-624

2009

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Prenatal sonographic findings in 187 fetuses with Down syndrome

Prenatal diagnosis, 1997-11, Vol.17 (11), p.1001-1009

1997

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Fragile X syndrome carrier screening in the prenatal genetic counseling setting

Genetics in medicine, 2005-04, Vol.7 (4), p.246-250

2005

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Prenatal diagnosis: cases and clinical challenges

2010

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Bilateral choroid plexus cysts in trisomy 21

American journal of obstetrics and gynecology, 1992-02, Vol.166 (2), p.591-592

1992

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Genomic Characterization of Prenatal Detected Chromosomal Structural Abnormalities Using Oligonucleotide Array Comparative Genomic Hybridization

American journal of medical genetics. Part A, 2011, Vol.155 (7), p.1605-1615

2011

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Automated microscopy of amniotic fluid cells for the detection of fish signals: A method to increase accuracy and lower costs

American journal of obstetrics and gynecology, 2005-12, Vol.193 (6), p.S160-S160

2005

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Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome

Meta Gene, 2017-02, Vol.11, p.147-151

2017

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Screening for Down's syndrome

The New England journal of medicine, 1988-04, Vol.318 (14), p.926-929

1988

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Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels

The New England journal of medicine, 1987-08, Vol.317 (6), p.342-346

1987

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Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

Prenatal diagnosis, 1993-06, Vol.13 (6), p.481-494

1993

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Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study

American journal of obstetrics and gynecology, 1990-02, Vol.162 (2), p.495-501

1990

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First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

Prenatal diagnosis, 1993-07, Vol.13 (7), p.589-596

1993

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Fetal Infection and Teratogens

Prenatal Diagnosis, 2011, p.111-113

2011

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Cytogenetic Abnormalities

Prenatal Diagnosis, 2011, p.1-21

2011

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First and Second Trimester Screening

Prenatal Diagnosis, 2011, p.80-86

2011

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Mendelian Inheritance

Prenatal Diagnosis, 2011, p.22-65

2011

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Abnormal Ultrasound Findings

Prenatal Diagnosis, 2011, p.87-97

2011

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Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

Prenatal Diagnosis: Cases and Clinical Challenges

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

eP154 - Maternal uniparental isodisomy of chromosome 2 leading to homozygous variants in SPR and ZNF142: case report and literature review

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease

Prenatal sonographic findings in 187 fetuses with Down syndrome

Fragile X syndrome carrier screening in the prenatal genetic counseling setting

Prenatal diagnosis: cases and clinical challenges

Bilateral choroid plexus cysts in trisomy 21

Genomic Characterization of Prenatal Detected Chromosomal Structural Abnormalities Using Oligonucleotide Array Comparative Genomic Hybridization

Automated microscopy of amniotic fluid cells for the detection of fish signals: A method to increase accuracy and lower costs

Familial GPC3 and GPC4-TFDP3 deletions at Xq26 associated with Simpson-Golabi-Behmel syndrome

Screening for Down's syndrome

Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels

Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

Fetal Infection and Teratogens

Cytogenetic Abnormalities

First and Second Trimester Screening

Mendelian Inheritance

Abnormal Ultrasound Findings

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