Výsledky vyhledávání

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

Autor: S J, Hassed, D, Hopcus-Niccum, L, Zhang, S, Li, J J, Mulvihill

Publikováno v: Clinical genetics. 65(5)

Fluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low-set posteriorly rotated ears, down-slanting palpe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d37d265bead925aa478b0e4d52d44873
https://pubmed.ncbi.nlm.nih.gov/15099348

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Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities

Autor: C, Cunniff, M, Curtis, S J, Hassed, H E, Hoyme

Publikováno v: American journal of medical genetics. 75(1)

We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic. Mental retardation or developmental delay was seen in 8 of the 12 childr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::03667662355dc0e0f88a0ed1ddb078f9
https://pubmed.ncbi.nlm.nih.gov/9450857

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Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome

Autor: J R, Sawyer, C M, Swanson, J L, Lukacs, S J, Hassed, M A, Curtis, P E, North, K J, Kozlowski, C, Pihoker

Publikováno v: American journal of medical genetics. 69(4)

We describe the cytogenetic evolution of multiple cell lines in the gonadal tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving clonal telomeric associations (tas) of the Y chromosome. G-band analysis of all tissues showe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f5614694a266a6661d618203b1537eb2
https://pubmed.ncbi.nlm.nih.gov/9098487

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Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly

Autor: J R, Sawyer, J L, Lukacs, S J, Hassed, G L, Arnold, H F, Mitchell, M, Muenke

Publikováno v: American journal of medical genetics. 65(2)

We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::19ad5033556f456f5acea89a7f751ac7
https://pubmed.ncbi.nlm.nih.gov/8911601

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Clouston syndrome: an ectodermal dysplasia without significant dental findings

Autor: S J, Hassed, J M, Kincannon, G L, Arnold

Publikováno v: American journal of medical genetics. 61(3)

The ectodermal dysplasias are a heterogeneous group of conditions primarily affecting the hair, teeth, nails, and skin, and are classified according to the tissue(s) affected. The classification categories are: (1) abnormalities of hair, (2) dental d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a69d3e211884e2b974c8b2698f8ffee9
https://pubmed.ncbi.nlm.nih.gov/8741874

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Perinatal lethal conditions: the effect of diagnosis on decision making

Autor: S J, Hassed, C H, Miller, S K, Pope, P, Murphy, J G, Quirk, C, Cunniff

Publikováno v: Obstetrics and gynecology. 82(1)

To identify factors influencing pregnancy management decisions following identification of a perinatal lethal condition.One hundred thirty pregnancies with perinatal lethal conditions diagnosed before 24 weeks' gestation were examined. Information co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::921f3a69a81e8b2a92780d4698198d2b
https://pubmed.ncbi.nlm.nih.gov/8515923

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