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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

American journal of medical genetics, 2004-09, Vol.130A (1), p.45-51

2004

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Mapping translocation breakpoints by next-generation sequencing

Genome Research, 2008-07, Vol.18 (7), p.1143-1149

2008

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The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2832-2833

2006

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Direct tandem duplication in chromosome 19q characterized by array CGH

European journal of medical genetics, 2008-05, Vol.51 (3), p.257-263

2008

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Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1134-1141

2008

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A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

American journal of medical genetics, 2004-05, Vol.127A (1), p.69-73

2004

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Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.71-75

2005

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A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail

Birth defects research. A Clinical and molecular teratology, 2005-01, Vol.73 (1), p.61-64

2005

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

BMC medical genetics, 2009-06, Vol.10 (48), p.48-48, Article 48

2009

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Mietens-Weber syndrome: two new patients and a review

Clinical dysmorphology, 2006-07, Vol.15 (3), p.175-177

2006

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Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder

Molecular diagnosis, 2003, Vol.7 (2), p.125-128

2003

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Identification of human candidate genes for male infertility by digital differential display

Molecular human reproduction, 2001-01, Vol.7 (1), p.11-20

2001

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Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

American journal of human genetics, 1999-07, Vol.65 (1), p.68-76

1999

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Craniofacial dyssynostosis: Description of the first four Spanish cases and review

American journal of medical genetics. Part A, 2005-01, Vol.132A (1), p.41-48

2005

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Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y

European journal of medical genetics, 2005-04, Vol.48 (2), p.159-166

2005

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Unrelated Chromosomal Anomalies Found in Patients With Suspected 22qll.2 Deletion

American journal of medical genetics. Part A, 2008, Vol.146 (9), p.1134-1141

2008

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Beckwith-Wiedemann syndrome due to 1 1p15.5 paternal duplication associated with Klinefelter syndrome and a de novo pericentric inversion of chromosome Y

European journal of medical genetics, 2005, Vol.48 (2), p.159-166

2005

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Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

Journal of medical genetics, 1999-09, Vol.36 (9), p.694-699

1999

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Hyperekplexia (Startle Disease): A Novel Mutation (S270T) in the M2 Domain of the GLRA1 Gene and a Molecular Review of the Disorder

Molecular diagnosis, 2003, Vol.7 (2), p.125-128

2003

Volltextzugriff (PDF)

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail: FGFR2 Mutation, Crouzon Phenotype and Tail

Birth defects research. A Clinical and molecular teratology, 2005-01, Vol.73 (1), p.61-64

2005

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Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22qll.2 deletion syndrome

American journal of medical genetics, 2005, Vol.136A (1), p.71-75

2005

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Craniofacial dyssynostosis: Description of the first four Spanish cases and review

American journal of medical genetics, 2005, Vol.132A (1), p.41-48

2005

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Familial translocation t(10;21)(q22;q22)

Human genetics, 1979-01, Vol.50 (3), p.253-258

1979

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Ultrastructure of Leydig cells in Klinefelter's syndrome with 48, XXYY karyotype

Virchows Archiv. B, Cell pathology, 1978-01, Vol.28 (1), p.39-46

1978

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Beckwith?Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a ?de novo? pericentric inversion of chromosome Y

Annales de génétique, 2004-11

2004

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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

Mapping translocation breakpoints by next-generation sequencing

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

Direct tandem duplication in chromosome 19q characterized by array CGH

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Mietens-Weber syndrome: two new patients and a review

Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder

Identification of human candidate genes for male infertility by digital differential display

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

Craniofacial dyssynostosis: Description of the first four Spanish cases and review

Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y

Unrelated Chromosomal Anomalies Found in Patients With Suspected 22qll.2 Deletion

Beckwith-Wiedemann syndrome due to 1 1p15.5 paternal duplication associated with Klinefelter syndrome and a de novo pericentric inversion of chromosome Y

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

Hyperekplexia (Startle Disease): A Novel Mutation (S270T) in the M2 Domain of the GLRA1 Gene and a Molecular Review of the Disorder

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail: FGFR2 Mutation, Crouzon Phenotype and Tail

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22qll.2 deletion syndrome

Craniofacial dyssynostosis: Description of the first four Spanish cases and review

Familial translocation t(10;21)(q22;q22)

Ultrastructure of Leydig cells in Klinefelter's syndrome with 48, XXYY karyotype

Beckwith?Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a ?de novo? pericentric inversion of chromosome Y

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