Cytogenetics of Prader-Willi syndrome

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Clinical genetics·2004

Twin brothers with MIDAS syndrome and XX karyotype.

American journal of medical genetics. Part A·2003

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

American journal of medical genetics·2001

Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.

American journal of medical genetics·2001

Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.

American journal of medical genetics·1999

Delineation of 14q32.3 deletion syndrome.

Journal of medical genetics·1997

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Preputial cyst in the newborn: a case report.

The Pan African medical journal·2026

Use of whole blood in pediatric congenital heart surgery.

JTCVS open·2026

Managing cyanotic neonates with tetralogy of Fallot: A national perspective on surgical approaches.

JTCVS open·2026

Assessing the applicability of Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) categories in neonatal and low-weight congenital cardiac surgery: Insights from 20 years at a single center.

JTCVS open·2026

Dyke-Davidoff-Masson Syndrome Underlying Hemiplegic Cerebral Palsy in an Adolescent: A Case Report.

Cureus·2026

Streamlining Urinary Tract Infection Evaluation in a Large Pediatric Hospital System: Feasibility of Reflex Urine Culture After Urinalysis With Microscopy.

Archives of pathology & laboratory medicine·2026

Related Experiment Videos

Cytogenetics of Prader-Willi syndrome

Related Concept Videos

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Twin brothers with MIDAS syndrome and XX karyotype.

New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.

Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.

Delineation of 14q32.3 deletion syndrome.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Preputial cyst in the newborn: a case report.

Use of whole blood in pediatric congenital heart surgery.

Managing cyanotic neonates with tetralogy of Fallot: A national perspective on surgical approaches.

Assessing the applicability of Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) categories in neonatal and low-weight congenital cardiac surgery: Insights from 20 years at a single center.

Dyke-Davidoff-Masson Syndrome Underlying Hemiplegic Cerebral Palsy in an Adolescent: A Case Report.

Streamlining Urinary Tract Infection Evaluation in a Large Pediatric Hospital System: Feasibility of Reflex Urine Culture After Urinalysis With Microscopy.

Related Experiment Videos

Cytogenetics of Prader-Willi syndrome

Related Concept Videos

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