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Identification of Chromothripsis in Biopsy Using SNP-Based Microarray

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1769, p.85

2018

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A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

European journal of medical genetics, 2011-07, Vol.54 (4), p.e394-e398

2011

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A t(1;9)(q10;q10) translocation with additional 6q23 and 9q22 rearrangements in a case of chondromyxoid fibroma

Cancer genetics, 2011-12, Vol.204 (12), p.666-670

2011

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Oxidatively modified low‐density lipoproteins are potential mediators of proteasome inhibitor resistance in multiple myeloma

International journal of cancer, 2021-06, Vol.148 (12), p.3032-3040

2021

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Phagocytosis-initiated tumor hybrid cells acquire a c-Myc-mediated quasi-polarization state for immunoevasion and distant dissemination

Nature communications, 2023-10, Vol.14 (1), p.6569-6569, Article 6569

2023

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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Journal of medical genetics, 2023-06, Vol.60 (6), p.547-556

2023

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Fusion of HMGA2 to COG5 in uterine leiomyoma

Cancer genetics and cytogenetics, 2010-10, Vol.202 (1), p.11-16

2010

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Immortalization and characterization of human myometrial cells from term-pregnant patients using a telomerase expression vector

Molecular human reproduction, 2004-09, Vol.10 (9), p.685-695

2004

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Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature

Cancer genetics, 2022-04, Vol.262-263, p.30-34

2022

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Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

American journal of human genetics, 2005-04, Vol.76 (4), p.652-662

2005

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Sonographic, Pathologic andKaryotypic Findings in a Rare Case of Placenta fenestrata

Fetal diagnosis and therapy, 2004-11, Vol.19 (6), p.479-482

2004

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Prenatal Diagnosis of a Fetus with Unbalanced Translocation (4;13)(p16;q32) with Overlapping Features of Patau and Wolf-Hirschhorn Syndromes

Fetal diagnosis and therapy, 2002-11, Vol.17 (6), p.347-351

2002

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Cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions: Report of 2 cases

Experimental and molecular pathology, 2013-02, Vol.94 (1), p.98-102

2013

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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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Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Clinical dysmorphology, 2010-10, Vol.19 (4), p.185-189

2010

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Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.751-754

2009

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A case of Down syndrome with mirror-image duplication of chromosome 21

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1580-1582

2010

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Amplification of the RARA gene in acute myeloid leukemia: significant finding or coincidental observation?

Cancer genetics and cytogenetics, 2010-10, Vol.202 (1), p.33-37

2010

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Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1166-1172

2008

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Do cytogenetic abnormalities precede morphologic abnormalities in a developing malignant condition?

European journal of haematology, 2007-02, Vol.78 (2), p.152-156

2007

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First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2578-2582

2008

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Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.136-140

2005

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Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family

Indian journal of pediatrics, 2008-09, Vol.75 (9), p.956-960

2008

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Subtelomeric rearrangements in idiopathic mental retardation

Indian journal of pediatrics, 2005-08, Vol.72 (8), p.679-685

2005

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Cytogenetic and molecular studies of an unusual case of multiple primary alveolar rhabdomyosarcomas: Low-level chromosomal instability and reciprocal translocation t(6;11)

Experimental and molecular pathology, 2007-02, Vol.82 (1), p.58-62

2007

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Identification of Chromothripsis in Biopsy Using SNP-Based Microarray

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

A t(1;9)(q10;q10) translocation with additional 6q23 and 9q22 rearrangements in a case of chondromyxoid fibroma

Oxidatively modified low‐density lipoproteins are potential mediators of proteasome inhibitor resistance in multiple myeloma

Phagocytosis-initiated tumor hybrid cells acquire a c-Myc-mediated quasi-polarization state for immunoevasion and distant dissemination

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Fusion of HMGA2 to COG5 in uterine leiomyoma

Immortalization and characterization of human myometrial cells from term-pregnant patients using a telomerase expression vector

Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Sonographic, Pathologic andKaryotypic Findings in a Rare Case of Placenta fenestrata

Prenatal Diagnosis of a Fetus with Unbalanced Translocation (4;13)(p16;q32) with Overlapping Features of Patau and Wolf-Hirschhorn Syndromes

Cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions: Report of 2 cases

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

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Molecular cytogenetic characterization of an interstitial de novo 13q deletion in a 3‐month‐old with severe pediatric gastroesophageal reflux

A case of Down syndrome with mirror-image duplication of chromosome 21

Amplification of the RARA gene in acute myeloid leukemia: significant finding or coincidental observation?

Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

Do cytogenetic abnormalities precede morphologic abnormalities in a developing malignant condition?

First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family

Subtelomeric rearrangements in idiopathic mental retardation

Cytogenetic and molecular studies of an unusual case of multiple primary alveolar rhabdomyosarcomas: Low-level chromosomal instability and reciprocal translocation t(6;11)

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