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Franceschetti Corneal Dystrophy
Franceschetti is an Italian surname. Notable people with the surname include: *Adolphe Franceschetti (1896–1968), Swiss ophthalmologist ** Franceschetti–Klein syndrome **Naegeli–Franceschetti–Jadassohn syndrome ** Franceschetti-Zwahlen-Klein syndrome ** Treacher Collins-Franceschetti syndrome 1 *Benito Gennaro Franceschetti (1935-2012), Italian Roman Catholic archbishop of Fermo * Bruno Franceschetti (born 1941), Italian gymnast *Lou Franceschetti Louis Carlo Franceschetti (born March 28, 1958) is a Canadian former professional ice hockey player. He played in the National Hockey League with the Washington Capitals, Toronto Maple Leafs, and Buffalo Sabres between 1981 and 1991. He was selec ... (born 1958), Canadian ice hockey player {{surname Italian-language surnames Patronymic surnames Surnames from given names it:Franceschetti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adolphe Franceschetti
Adolphe Franceschetti (11 October 1896, in Zürich – 3 March 1968, in Geneva) was a Swiss ophthalmologist. He studied medicine at the University of Zürich, where he also spent several years as an assistant in its ophthalmological clinic. At Zurich, his influences were Otto Haab and Alfred Vogt. Later on, he relocated to the University of Basel as an assistant under Arthur Brückner at the eye clinic. In 1931 he obtained his habilitation at Basel, and from 1933 to 1966 was a professor and director of the university eye clinic in Geneva.Adolphe Franceschetti at In 1948 he established a department of |
Franceschetti–Klein Syndrome
Franceschetti–Klein syndrome (also known as "mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .It is sometimes equated with Treacher Collins syndrome. See also * Dysostosis References External links Genodermatoses Congenital disorders of musculoskeletal system Rare syndromes {{Genodermatoses-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Naegeli–Franceschetti–Jadassohn Syndrome
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers. Naegeli syndrome is similar to dermatopathia pigmentosa reticularis, both of which are caused by a specific defect in the keratin 14 protein. Cause NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21. The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis In most cases of N ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Franceschetti-Zwahlen-Klein Syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited from a person's parents. The involved genes may include ''TCOF1'', ''POLR1C'', or ''POLR1D''. Diagnosis is generally suspected based on symptoms and radiographs, X-rays, and potentially confirmation by genetic testing. Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an Engla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Treacher Collins-Franceschetti Syndrome 1
Treacle protein is a protein that in humans is encoded by the ''TCOF1'' gene. This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date. TCOF1 is a gene that provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues in the face. Although the precise function of this protein is unknown, researchers believe that it plays a critical role in the development of facial bones and related structures. Studies suggest that treacle is involved in the production of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benito Gennaro Franceschetti
Benito Gennaro Franceschetti (June 14, 1935 – February 4, 2005) was a Roman Catholic archbishop. Ordained to the priesthood in 1960, Franceschetti was appointed archbishop of the Roman Catholic Archdiocese of Fermo, Italy Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical re ..., in 1997. He died while still in office. Notes 1935 births 2005 deaths Archbishops of Fermo 20th-century Italian Roman Catholic archbishops {{Italy-RC-archbishop-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bruno Franceschetti
Bruno Franceschetti (born 30 April 1941) is a retired Italian gymnast. He competed at the 1964 and 1968 Olympics in all artistic gymnastics events and finished in 4th and 12th place with the Italian team, respectively. His best individual result was 36th place on the pommel horse in 1968. Franceschetti won a gold medal with the Italian team at the 1967 Mediterranean Games. After retiring from competitions Franceschetti worked as gymnastics coach. Jury Chechi Jury Dimitri Chechi (; born 11 October 1969) is a retired Italian gymnast. Biography Chechi was named after cosmonaut Yuri Gagarin. He won the Olympics title in the rings at Atlanta 1996 and was third at Athens 2004. Chechi's bronze was the r ... was one of his trainees. References 1941 births Living people Gymnasts at the 1964 Summer Olympics Gymnasts at the 1968 Summer Olympics Olympic gymnasts of Italy Italian male artistic gymnasts Mediterranean Games medalists in gymnastics Mediterranean Games gold meda ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lou Franceschetti
Louis Carlo Franceschetti (born March 28, 1958) is a Canadian former professional ice hockey player. He played in the National Hockey League with the Washington Capitals, Toronto Maple Leafs, and Buffalo Sabres between 1981 and 1991. He was selected in the 1978 NHL Amateur Draft by the Washington Capitals, Francheschetti also played for the Toronto Maple Leafs and Buffalo Sabres The Buffalo Sabres are a professional ice hockey team based in Buffalo, New York. The Sabres compete in the National Hockey League (NHL) as a member of the Atlantic Division in the Eastern Conference. The team was established in 1970, along w .... Lou was a fan favorite in the late 1980s during his tenure as a Capital, mainly for his hard hits. He retired from active play in 1996, and is now working for a warehouse pallet racking construction company in Toronto, called Rax-Co. He also played in the Canadian Minor Ball Hockey League, where he played with the York Canadians and finished with 85 goals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Italian-language Surnames
Italian (''italiano'' or ) is a Romance language of the Indo-European language family that evolved from the Vulgar Latin of the Roman Empire. Together with Sardinian, Italian is the least divergent language from Latin. Spoken by about 85 million people (2022), Italian is an official language in Italy, Switzerland (Ticino and the Grisons), San Marino, and Vatican City. It has an official minority status in western Istria (Croatia and Slovenia). Italian is also spoken by large immigrant and expatriate communities in the Americas and Australia.Ethnologue report for language code:ita (Italy) – Gordon, Raymond G., Jr. (ed.), 2005. Ethnologue: Languages of the World, Fifteenth edition. Dallas, Tex.: SIL International. Online version Italian ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patronymic Surnames
A patronymic, or patronym, is a component of a personal name based on the given name of one's father, grandfather (avonymic), or an earlier male ancestor. Patronymics are still in use, including mandatory use, in many countries worldwide, although their use has largely been replaced by or transformed into patronymic surnames. Examples of such transformations include common English surnames such as Johnson (son of John). Origins of terms The usual noun and adjective in English is ''patronymic'', but as a noun this exists in free variation alongside ''patronym''. The first part of the word ''patronym'' comes from Greek πατήρ ''patēr'' "father" (GEN πατρός ''patros'' whence the combining form πατρο- ''patro''-); the second part comes from Greek ὄνυμα ''onyma'', a variant form of ὄνομα ''onoma'' "name". In the form ''patronymic'', this stands with the addition of the suffix -ικός (''-ikos''), which was originally used to form adjectives with the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Surnames From Given Names
In some cultures, a surname, family name, or last name is the portion of one's personal name that indicates one's family, tribe or community. Practices vary by culture. The family name may be placed at either the start of a person's full name, as the forename, or at the end; the number of surnames given to an individual also varies. As the surname indicates genetic inheritance, all members of a family unit may have identical surnames or there may be variations; for example, a woman might marry and have a child, but later remarry and have another child by a different father, and as such both children could have different surnames. It is common to see two or more words in a surname, such as in compound surnames. Compound surnames can be composed of separate names, such as in traditional Spanish culture, they can be hyphenated together, or may contain prefixes. Using names has been documented in even the oldest historical records. Examples of surnames are documented in the 11th ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
