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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

American journal of human genetics, 2003-11, Vol.73 (5), p.1027-1040

2003

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Mosaic Tetrasomy 13q and Phylloid Hypomelanosis: A Case Report and Review of the Literature

Pediatric dermatology, 2015-03, Vol.32 (2), p.263-266

2015

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Genotoxicity associated with hydroxyurea exposure in infants with sickle cell anemia: Results from the BABY-HUG phase III clinical trial

Pediatric blood & cancer, 2012-08, Vol.59 (2), p.254-257

2012

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Complete monosomy 21 confirmed by FISH and array-CGH

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.935-937

2012

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Long‐term follow‐up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

American journal of medical genetics. Part A, 2007-11, Vol.143A (21), p.2616-2622

2007

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Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2234-2241

2008

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A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies

European journal of radiology extra, 2010-11, Vol.76 (2), p.e65-e68

2010

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Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker

Clinical genetics, 1998-11, Vol.54 (5), p.421-425

1998

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Genotoxicity Associated with Hydroxyurea Exposure in Infants with Sickle Cell Anemia: Results From the BABY-HUG Phase III Clinical Trial

Blood, 2011-11, Vol.118 (21), p.8-8

2011

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Acute leukemia with PICALM–MLLT10 fusion gene: diagnostic and treatment struggle

Cancer genetics and cytogenetics, 2010-10, Vol.202 (2), p.129-132

2010

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Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

American journal of medical genetics, 2002-12, Vol.113 (4), p.367-370

2002

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Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

American journal of medical genetics, 1995-01, Vol.55 (2), p.165-170

1995

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Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure

American journal of medical genetics, 2001-11, Vol.104 (1), p.31-36

2001

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Packed red cell transfusion does not compromise chromosome analysis in newborns

Genetics in medicine, 2001-07, Vol.3 (4), p.314-317

2001

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Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Clinical genetics, 1997-02, Vol.51 (2), p.115-117

1997

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Mosaic Tetrasomy 13q and Phylloid Hypomelanosis: A Case Report and Review of the Literature

Pediatric Dermatology, 2015, Vol.32 (2), p.263-266

2015

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Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2‐year follow‐up and a brief review of other prenatal cases of partial trisomy 6q

Clinical genetics, 1997-02, Vol.51 (2), p.115-117

1997

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Preserved speech variants of the Rett syndrome: Molecular and clinical analysis

American journal of medical genetics, 2001-11, Vol.104 (1), p.14-22

2001

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Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

American Journal of Medical Genetics, 2002, Vol.113 (4), p.367-370

2002

Volltextzugriff (PDF)

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

American Journal of Medical Genetics Part A, 2007, Vol.143A (21), p.2616-2622

2007

Volltextzugriff (PDF)

Exclusion ofSIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure

American journal of medical genetics, 2001-11, Vol.104 (1), p.31-36

2001

Volltextzugriff (PDF)

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems

American journal of medical genetics, 1998-06, Vol.77 (5), p.391-394

1998

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Kenny-Caffey syndrome and microorchidism

American journal of medical genetics, 1998-11, Vol.80 (2), p.107-111

1998

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Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23

American journal of medical genetics, 1995-03, Vol.56 (1), p.16-21

1995

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Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion

American journal of medical genetics, 1993-11, Vol.47 (6), p.817-819

1993

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Mosaic Tetrasomy 13q and Phylloid Hypomelanosis: A Case Report and Review of the Literature

Genotoxicity associated with hydroxyurea exposure in infants with sickle cell anemia: Results from the BABY-HUG phase III clinical trial

Complete monosomy 21 confirmed by FISH and array-CGH

Long‐term follow‐up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features

A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies

Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker

Genotoxicity Associated with Hydroxyurea Exposure in Infants with Sickle Cell Anemia: Results From the BABY-HUG Phase III Clinical Trial

Acute leukemia with PICALM–MLLT10 fusion gene: diagnostic and treatment struggle

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure

Packed red cell transfusion does not compromise chromosome analysis in newborns

Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Mosaic Tetrasomy 13q and Phylloid Hypomelanosis: A Case Report and Review of the Literature

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2‐year follow‐up and a brief review of other prenatal cases of partial trisomy 6q

Preserved speech variants of the Rett syndrome: Molecular and clinical analysis

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex

Exclusion ofSIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure

Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems

Kenny-Caffey syndrome and microorchidism

Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23

Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion

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