Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection

American Journal of Medical Genetics
M Pinheiro, N Freire-Maia

Abstract

Detection of carriers of the Christ-Siemens-Touraine syndrome on the basis of data of physical examination has been possible in about 60--70% of the cases reported in 44 papers, including a large Brazilian kindred studied by the authors. Partial data, however, showed detection values ranging from 42% to 84%.

References

Oct 29, 1977·Lancet·M Pinheiro, N Freire-Maia
Jan 1, 1977·Acta geneticae medicae et gemellologiae·N Freire-Maia
Jun 9, 1978·Human Genetics·J P FrynsH van den Berghe
Jun 1, 1976·Journal of Medical Genetics·W M SettineriM J Fretas
Jan 1, 1975·Dermatologica·Y ShoenfeldI Dvoretzky
Aug 1, 1975·Archives of Disease in Childhood·J B FamilusiE B Attah
Apr 21, 1973·Lancet·J GermanA P De Mayo
Jan 28, 1967·Nature·L Juhlin, W B Shelley
Sep 12, 1973·Nature: New Biology·E Passarge, E Fries
Jan 1, 1972·Human Heredity·I CatN Freire-Maia
Jan 1, 1971·Human Heredity·N Freire-Maia
Dec 1, 1965·Oral Surgery, Oral Medicine, and Oral Pathology·W N Alexander, H J Allen
May 1, 1968·The Journal of the American Dental Association·W A Cook, F J Kane
Aug 1, 1970·Archives of Dermatology·W B ReedB Landing
Sep 1, 1970·The British Journal of Dermatology·J Verbov
Jan 1, 1971·Annals of Internal Medicine·J O BeahrsP T Rowley
May 1, 1968·The Journal of Pediatrics·J L Frias, D W Smith
Jul 1, 1965·The Journal of Pathology and Bacteriology·H de Jager
Nov 1, 1965·Annals of Human Genetics·H KriegerN Yasuda
Sep 1, 1966·Journal of Medical Genetics·C B KerrK E Cooper
Jun 1, 1956·Oral Surgery, Oral Medicine, and Oral Pathology·L M SACKETTR J HURSEY
Feb 1, 1952·The Journal of the American Dental Association·F G EVERETTT SUHER
Mar 1, 1952·The Journal of Pediatrics·B F METSON, B K WILLIAMS
Dec 1, 1949·Archives of Dermatology and Syphilology·B Y UPSHAW, H MONTGOMERY

❮ Previous
Next ❯

Citations

Jan 27, 2010·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·M O Lexner, L Almer
Aug 1, 1982·Journal of Medical Genetics·N Freire-Maia, M Pinheiro
Dec 22, 2006·International Journal of Paediatric Dentistry·Michala O LexnerSven Kreiborg
Apr 3, 2007·International Journal of Paediatric Dentistry·Michala Oron LexnerSven Kreiborg
Nov 2, 2007·Orthodontics & Craniofacial Research·M O LexnerS Kreiborg
Oct 13, 2016·Indian Dermatology Online Journal·Sunil K KothiwalaC M Kuldeep
Jan 1, 1990·American Journal of Medical Genetics·S S Saksena, D Bixler
Dec 15, 1991·American Journal of Medical Genetics·T BustosM Ramela
Jun 27, 2014·European Journal of Dentistry·Derya Germec CakanTulin Taner
Sep 26, 2020·Clinics in Dermatology·Shayan CheraghlouKeith A Choate

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

International Journal of Paediatric Dentistry
M O LexnerS Kreiborg
International Journal of Paediatric Dentistry
M O LexnerS Kreiborg
Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
B Bergendal
© 2021 Meta ULC. All rights reserved