The Experts below are selected from a list of 6012 Experts worldwide ranked by ideXlab platform
Diane Thompson - One of the best experts on this subject based on the ideXlab platform.
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VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex‐linked Recessive Inheritance
American Journal of Medical Genetics, 1993Co-Authors: Hungshu Wang, Alasdair G. W. Hunter, Brian Clifford, Margaret Mclaughlin, Diane ThompsonAbstract:The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these patients may represent the severe expression of Fanconi anemia. The pattern of Inheritance in our family is highly suggestive of X-Linked Recessive Inheritance supporting the hypothesis that VACTERL-H is, at least in some cases, a syndrome and not an association. © 1993 Wiley-Liss, Inc.
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vacterl with hydrocephalus spontaneous chromosome breakage and rearrangement in a family showing apparent sex linked Recessive Inheritance
American Journal of Medical Genetics, 1993Co-Authors: Hungshu Wang, Alasdair G. W. Hunter, Brian Clifford, Margaret Mclaughlin, Diane ThompsonAbstract:The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these patients may represent the severe expression of Fanconi anemia. The pattern of Inheritance in our family is highly suggestive of X-Linked Recessive Inheritance supporting the hypothesis that VACTERL-H is, at least in some cases, a syndrome and not an association. © 1993 Wiley-Liss, Inc.
Alexander K. C. Leung - One of the best experts on this subject based on the ideXlab platform.
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X-Linked Recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly
Clinical genetics, 2008Co-Authors: W. Lane M. Robson, R. Brian Lowry, Alexander K. C. LeungAbstract:A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-Linked Recessive Inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
H. Frisch - One of the best experts on this subject based on the ideXlab platform.
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Diagnosis of X-Recessive Kallmann syndrome in early infancy
European Journal of Pediatrics, 1994Co-Authors: R. Birnbacher, K. Wandl-vergesslich, H. FrischAbstract:A 3-month-old infant presented with hypogonadism, a small penis and bilateral cryptorchidism. He showed an insufficient response of luteotropic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorionic gonadotrophin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination showed hypoplasia of the rhinencephalon in both cases. These findings in the son and brother of the clinically unaffected mother suggest X-Linked Recessive Inheritance.
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Diagnosis of X-Recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon.
European journal of pediatrics, 1994Co-Authors: R. Birnbacher, K. Wandl-vergesslich, H. FrischAbstract:A 3-month-old infant presented with hypogonadism, a small penis and bilateral cryptorchidism. He showed an insufficient response of luteotropic hormone (LH) and follicle stimulating hormone (FSH) to luteotropic hormone releasing hormone (LHRH) and of testosterone to human chorionic gonadotrophin. The maternal uncle had hypogonadism and anosmia and also showed an impaired LH and FSH response to LHRH. MRI examination showed hypoplasia of the rhinencephalon in both cases. These findings in the son and brother of the clinically unaffected mother suggest X-Linked Recessive Inheritance.
Hungshu Wang - One of the best experts on this subject based on the ideXlab platform.
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VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex‐linked Recessive Inheritance
American Journal of Medical Genetics, 1993Co-Authors: Hungshu Wang, Alasdair G. W. Hunter, Brian Clifford, Margaret Mclaughlin, Diane ThompsonAbstract:The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these patients may represent the severe expression of Fanconi anemia. The pattern of Inheritance in our family is highly suggestive of X-Linked Recessive Inheritance supporting the hypothesis that VACTERL-H is, at least in some cases, a syndrome and not an association. © 1993 Wiley-Liss, Inc.
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vacterl with hydrocephalus spontaneous chromosome breakage and rearrangement in a family showing apparent sex linked Recessive Inheritance
American Journal of Medical Genetics, 1993Co-Authors: Hungshu Wang, Alasdair G. W. Hunter, Brian Clifford, Margaret Mclaughlin, Diane ThompsonAbstract:The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these patients may represent the severe expression of Fanconi anemia. The pattern of Inheritance in our family is highly suggestive of X-Linked Recessive Inheritance supporting the hypothesis that VACTERL-H is, at least in some cases, a syndrome and not an association. © 1993 Wiley-Liss, Inc.
W. Lane M. Robson - One of the best experts on this subject based on the ideXlab platform.
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X-Linked Recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly
Clinical genetics, 2008Co-Authors: W. Lane M. Robson, R. Brian Lowry, Alexander K. C. LeungAbstract:A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-Linked Recessive Inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
