Two simultaneous terminal deletions in the same patient: a one- vs two-hit origin

Distal 13q monosomy and neural tube defects.

Genetic counseling (Geneva, Switzerland)·2018

Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23).

Genetic counseling (Geneva, Switzerland)·2014

De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Cytogenetic and genome research·2013

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

Advances in medical sciences·2009

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Journal of medical genetics·2008

Maternal transmission of a ring chromosome 15.

Genetic counseling (Geneva, Switzerland)·2003

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

Multifactorial Chylomicronemia Syndrome With a Rare APOA5 Variant and Recurrent Acute Pancreatitis: A Case Report From Rural Colombia.

Cureus·2026

Culturally Meaningful End-of-Life Care for a Patient With Cancer of Unknown Primary, and Severe Motor and Intellectual Disabilities: A Case Report.

Cureus·2026

The glioblastoma ecosystem: clonal evolution, heterogeneity, and therapeutic resistance.

Frontiers in cell and developmental biology·2026

Harnessing AI-driven approaches for detecting metabolic dysfunction-associated steatotic liver disease, assessing fibrosis, and stratifying hepatocellular carcinoma risk: a scoping review.

Frontiers in oncology·2026

The gut microbiota in colorectal cancer: role in cytokine regulation, intestinal immune barrier dysfunction.

Frontiers in oncology·2026

The role and application prospects of glycolysis-related non-coding RNAs in lung cancer.

Journal of translational medicine·2026

Related Experiment Videos

Two simultaneous terminal deletions in the same patient: a one- vs two-hit origin

Related Concept Videos

Distal 13q monosomy and neural tube defects.

Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23).

De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Maternal transmission of a ring chromosome 15.

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Multifactorial Chylomicronemia Syndrome With a Rare APOA5 Variant and Recurrent Acute Pancreatitis: A Case Report From Rural Colombia.

Culturally Meaningful End-of-Life Care for a Patient With Cancer of Unknown Primary, and Severe Motor and Intellectual Disabilities: A Case Report.

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Harnessing AI-driven approaches for detecting metabolic dysfunction-associated steatotic liver disease, assessing fibrosis, and stratifying hepatocellular carcinoma risk: a scoping review.

The gut microbiota in colorectal cancer: role in cytokine regulation, intestinal immune barrier dysfunction.

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Related Experiment Videos

Two simultaneous terminal deletions in the same patient: a one- vs two-hit origin

Related Concept Videos

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