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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Autism research, 2010-06, Vol.3 (3), p.137-141

2010

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Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis

Human molecular genetics, 2016-04, Vol.25 (7), p.1255-1270

2016

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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.391-399

2012

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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Human molecular genetics, 2009-04, Vol.18 (8), p.1377-1383

2009

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Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1924-1933

2012

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Human mutation, 2015-11, Vol.36 (11), p.1052-1063

2015

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Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT]

Hemoglobin, 2008-01, Vol.32 (6), p.596-600

2008

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Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review

Journal of Child Neurology, 2003-01, Vol.18 (1), p.62-64

2003

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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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A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation

European journal of medical genetics, 2013-09, Vol.56 (9), p.510-514

2013

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Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

European journal of medical genetics, 2013-09, Vol.56 (9), p.521-525

2013

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Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations

Genomics (San Diego, Calif.), 2001-06, Vol.74 (3), p.370-376

2001

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Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2301-2307

2010

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Microdeletion 9q22.3 Syndrome Includes Metopic Craniosynostosis, Hydrocephalus, Macrosomia, and Developmental Delay

American journal of medical genetics. Part A, 2012, Vol.158 (2), p.391-399

2012

Volltextzugriff (PDF)

Neonatal Cyanosis Due to a Novel Fetal M-Hemoglobin: Hemoglobin F-M Circleville (Gγ63 His→Leu)

Blood, 2005-11, Vol.106 (11), p.3806-3806

2005

Volltextzugriff (PDF)

Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism

Journal of investigative dermatology, 2005-03, Vol.124 (3), p.670-672

2005

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X-Linked Infantile Periodic Alternating Nystagmus

Ophthalmic genetics, 2005-06, Vol.26 (2), p.77-84

2005

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Cloning and Characterization of the Human Retina-Specific Gene MPP4, a Novel Member of the p55 Subfamily of MAGUK Proteins

Genomics (San Diego, Calif.), 2001-06, Vol.74 (3), p.377-384

2001

Volltextzugriff (PDF)

First-Trimester Prenatal Sonographic Findings Associated with Oeis (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects) Complex: A Case and Review of the Literature

American journal of perinatology, 1998-01, Vol.15 (1), p.15-17

1998

Volltextzugriff (PDF)

Cytogenetic studies in couples with recurrent pregnancy loss

Southern medical journal (Birmingham, Ala.), 1988-12, Vol.81 (12), p.1521-1524

1988

Volltextzugriff (PDF)

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

American Journal of Medical Genetics Part A, 2010, Vol.152A (9), p.2301-2307

2010

Volltextzugriff (PDF)

Apparently new oculo-cerebro-acral syndrome

American journal of medical genetics, 1984-11, Vol.19 (3), p.585-587

1984

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Duplication of the distal segment of 14q

American journal of medical genetics, 1983-11, Vol.16 (3), p.357-366

1983

Volltextzugriff (PDF)

A new X-linked mental retardation syndrome

American journal of medical genetics, 1985-08, Vol.21 (4), p.697-705

1985

Volltextzugriff (PDF)

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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Neonatal Cyanosis Due to a Novel Fetal Hemoglobin: Hb F-Circleville [Gγ63(E7)His→Leu, CAT>CTT]

Leigh Disease With Mitochondrial DNA A8344G Mutation: Case Report and Brief Review

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

A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

Imprinting Status of 11p15 Genes in Beckwith–Wiedemann Syndrome Patients with CDKN1C Mutations

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

Microdeletion 9q22.3 Syndrome Includes Metopic Craniosynostosis, Hydrocephalus, Macrosomia, and Developmental Delay

Neonatal Cyanosis Due to a Novel Fetal M-Hemoglobin: Hemoglobin F-M Circleville (Gγ63 His→Leu)

Analysis of KIT, SCF, and Initial Screening of SLUG in Patients with Piebaldism

X-Linked Infantile Periodic Alternating Nystagmus

Cloning and Characterization of the Human Retina-Specific Gene MPP4, a Novel Member of the p55 Subfamily of MAGUK Proteins

First-Trimester Prenatal Sonographic Findings Associated with Oeis (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects) Complex: A Case and Review of the Literature

Cytogenetic studies in couples with recurrent pregnancy loss

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

Apparently new oculo-cerebro-acral syndrome

Duplication of the distal segment of 14q

A new X-linked mental retardation syndrome

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