Temple Syndrome Latest Advances

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Journal: Genetics in medicine open

Published: December 06, 2024

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Journal: Genes

Published: November 15, 2024

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Journal: Clinical genetics

Published: November 12, 2024

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Journal: Annals of clinical and translational neurology

Published: September 28, 2024

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Journal: Journal of medical genetics

Published: July 19, 2024

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

Journal: Internal medicine (Tokyo, Japan)

Published: May 15, 2024

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Journal: BMC medical genomics

Published: March 02, 2024

Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.

Journal: American journal of medical genetics. Part A

Published: October 18, 2023

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Journal: Clinical epigenetics

Published: October 12, 2023

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.

Journal: Frontiers in genetics

Published: May 31, 2023

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: February 02, 2023

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.

Journal: Hormone research in paediatrics

Published: December 22, 2022

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Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

Using long-read sequencing to detect and subtype a case with Temple syndrome.

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.

Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes.

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.