Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level

The new Ghent criteria for Marfan syndrome: what do they change?

Clinical genetics·2011

Chromosomal assignment of three human melanocyte-specific genes.

International journal of oncology·2011

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

American journal of medical genetics. Part A·2009

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

European journal of human genetics : EJHG·2008

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Clinical genetics·2008

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Journal of medical genetics·2008

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

HLA·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.

HLA·2026

Related Experiment Videos

Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level

Related Concept Videos

The new Ghent criteria for Marfan syndrome: what do they change?

Chromosomal assignment of three human melanocyte-specific genes.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.

Related Experiment Videos

Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level

Related Concept Videos

Related Articles