Výsledky vyhledávání - "T J, de Ravel"

Autor: T J, De Ravel, E, Deckers, P L, Alliet, P, Petit, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 12(4)

The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with theImmunodeficiency-Centromere Instability-Facial anomalies(ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d34e317005fbece4eef1ca887c566a25
https://pubmed.ncbi.nlm.nih.gov/11837609

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Possible isochromosome 22 leading to trisomy 22

Autor: B F, Manasse, W M, Pfaffenzeller, N, Gurtunca, T J, de Ravel

Publikováno v: American journal of medical genetics. 95(5)

We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::495600267b56a61d14cb7c7b828ea2ab
https://pubmed.ncbi.nlm.nih.gov/11146458

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Trichorhinophalangeal syndrome type II: case report

Autor: L, Lambie, T J, de Ravel

Publikováno v: East African medical journal. 77(1)

Patients with the trichorhinophalangeal syndrome type II, also known as the Langer-Giedion syndrome, may present to the health care-givers or physicians in various specialties and need to be recognised in order that accurate diagnosis, management and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c73f9876636bb16ddbf9ff8b1652cc3
https://pubmed.ncbi.nlm.nih.gov/10944842

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Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis

Autor: S J, Donaldson, C A, Wright, T J, de Ravel

Publikováno v: Prenatal diagnosis. 19(6)

We describe a further case of trisomy 18 with total cranio-rachischisis and radial agenesis, and report the first case with thoraco-abdominoschisis. We review these rare findings in trisomy 18.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b4297b8fd06b4f59ab2a14dbb1f971d8
https://pubmed.ncbi.nlm.nih.gov/10416978

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Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity

Autor: T J, de Ravel, D E, Berkowitz, J M, Wagner, T, Jenkins

Publikováno v: Clinical dysmorphology. 8(1)

A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a80fdf8d04130e8713843eb9724e2080
https://pubmed.ncbi.nlm.nih.gov/10327250

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Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability

Autor: M A, Jordan, I, Marques, J, Rosendorff, T J, de Ravel

Publikováno v: Genetic counseling (Geneva, Switzerland). 9(2)

Trisomy 8 mosaicism is extremely variable in its phenotypic and cytogenic expression. We present five patients clearly demonstrating the lack of correlation between clinical and laboratory findings, and show that the aneuploid cell lines decreases wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7283ece928c7a99a3e2df81c0b140db5
https://pubmed.ncbi.nlm.nih.gov/9664211

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Tetra-amelia and splenogonadal fusion in Roberts syndrome

Autor: T J, de Ravel, M D, Seftel, C A, Wright

Publikováno v: American journal of medical genetics. 68(2)

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::04bbf67bf76d99ddd1344138bc670016
https://pubmed.ncbi.nlm.nih.gov/9028456

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Lethal neonatal mandibuloacral dysplasia

Autor: M D, Seftel, C A, Wright, P L, Po, T J, de Ravel

Publikováno v: American journal of medical genetics. 66(1)

We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first ti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4c0ac872468b89815397241a58d35f07
https://pubmed.ncbi.nlm.nih.gov/8957511

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Postmortem findings in three triploid fetuses

Autor: T J, de Ravel, C A, Wright, L I, Moller

Publikováno v: Birth defects original article series. 30(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a624a4577297933352663fc388b9a28b
https://pubmed.ncbi.nlm.nih.gov/9125338

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The Pallister-Killian syndrome in an African individual

Autor: B F, Woodman, M A, Jordan, L I, Moller, J D, Cartwright, T J, De Ravel

Publikováno v: Genetic counseling (Geneva, Switzerland). 6(1)

We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually hi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a33182ac7f4c83b1777db2f5c01eed01
https://pubmed.ncbi.nlm.nih.gov/7794559

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