Search Results - "GOLDEN, W. L"

Spermatid-Specific Expression of the Novel X-Linked Gene Product SPAN-X Localized to the Nucleus of Human Spermatozoa by WESTBROOK, V. A, DIEKMAN, A. B, FLICKINGER, C. J, HERR, J. C, KLOTZ, K. L, KHOLE, V. V, VON KAP-HERR, C, GOLDEN, W. L, EDDY, R. L, SHOWS, T. B, STOLER, M. H, LEE, C.-Y. G

“…Formation of mature spermatozoa involves a series of dramatic molecular and morphological changes in the male germ cell lineage. These changes result from the…”
Get full text

Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion by SHASHI, V, GOLDEN, W. L, ALLINSON, P. S, HALLORAN BLANTON, S, VON KAP-HERR, C, KELLY, T. E

“…It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during…”
Get full text

Discordant phenotypes and 45,X/46,X,idic(Y) by Kelly, T E, Franko, J B, Rogol, A, Golden, W L

“…Mosaicism introduces wide variability into the clinical expression of numerical and unbalanced structural chromosomal abnormalities. The phenotypic range of…”
Get full text

Gonadoblastomas in 45,X/46,XY mosaicism: Analysis of Y chromosome distribution by fluorescence in situ hybridization by IEZZONI, J. C, VON KAP-HERR, C, GOLDEN, W. L, GAFFEY, M. J

“…Gonadoblastomas are composed of nests of neoplastic germ cells and sex cord derivatives surrounded by ovarian-type stroma. These tumors are found almost…”
Get full text

Human fertilin β: Identification, characterization, and chromosomal mapping of an ADAM gene family member by Vidaeus, Cecilia M., von Kap-Herr, Chris, Golden, Wendy L., Eddy, Roger L., Shows, Thomas B., Herr, John C.

“…Fertilin α/β (PH30 α/β) is a heterodimeric sperm surface protein containing binding and fusion domains with potential for interaction with integrin receptors…”
Get full text

Interphase fluorescence in situ hybridization for trisomy 12 on archival ovarian sex cord-stromal tumors by Shashi, V, Golden, W L, von Kap-Herr, C, Andersen, W A, Gaffey, M J

“…Trisomy 12 is a nonrandom chromosomal abnormality found in a large proportion of ovarian sex cord-stromal tumors (OSCTs), including thecoma-fibromas (TFs) and…”
Get more information

Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization by Gaylinn, B D, von Kap-Herr, C, Golden, W L, Thorner, M O

Get more information

Genetic and phenotypic changes associated with the acquisition of tumorigenicity in human bladder cancer by Gildea, John J., Golden, Wendy L., Harding, Michael A., Theodorescu, Dan

“…There has been a general lack of human paired cell lines that both reproduce the in vivo spectrum of tumor progression of bladder cancer and have some of the…”
Get full text

Trilateral retinoblastoma variant indicative of the relevance of the retinoblastoma tumor-suppressor pathway to medulloblastomas in humans by Elias, W J, Lopes, M B, Golden, W L, Jane, Sr, J A, Gonzalez-Fernandez, F

“…Results of recent studies have led investigators to suggest that the retinoblastoma tumor-suppressor (rb) gene plays an underappreciated role in the genesis of…”
Get full text

Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene by Huang, Taosheng, Lin, Angela E., Cox, Gerald F., Golden, Wendy L., Feldman, Gerald L., Ute, Moog, Schrander-Stumpel, Connie, Kamisago, Mitsuhiro, Vermeulen, Stefan J.T.

“…Purpose: Terminal deletions of chromosome 4q are commonly associated with cardiovascular malformations (CVMs). The dHAND gene (HAND2, heart and neural crest…”
Get full text

The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1 by Steele, M W, Wenger, S L, Geweke, L O, Golden, W L

“…A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome:…”
Get more information

Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes by Park, V M, Gustashaw, K M, Bilenker, R M, Golden, W L

“…We identified an isochromosome of 18p [47,XY, +i(18p)] conclusively by in situ hybridization of an 18p-specific probe (B74; D18S3) to metaphase chromosomes of…”
Get more information

Acquisition of acoustic startle response in relation to growth and thyroid function in rats by Schneider, B F, Golden, W L

“…Thiourea was administered by gavage to pregnant and lactating rats from gestational day 18 until postnatal day 10, at doses of 100 or 250 mg per day…”
Get more information

Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis by Fryburg, J S, Golden, W L

“…We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX,del(8)(q13.3q22.1)]. She has severe mental retardation and minor…”
Get more information

Choanal atresia in a patient with the deletion (9p) syndrome by Shashi, V, Golden, W L, Fryburg, J S

“…We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with…”
Get more information

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome by Fryburg, Julie S., Lin, Kant Y., Golden, Wendy L.

“…This report is on a 14‐month‐old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested…”
Get full text

Ocular abnormalities in terminal deletion of the long arm of chromosome seven by Reynolds, J D, Golden, W L, Zhang, Y, Hiles, D A

“…Patients with distal deletions of the long arm of chromosome 7q have been reported with a variety of non-specific findings. Ocular findings have been limited…”
Get more information

Distal deletion of the short arm of chromosome 6 by Zurcher, V L, Golden, W L, Zinn, A B

“…We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported…”
Get more information

Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype by Karnitis, S A, Burns, K, Sudduth, K W, Golden, W L, Wilson, W G

“…We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal…”
Get more information

Cytogenetic Abnormalities in Primary Bronchopulmonary Leiomyosarcoma of Childhood by Schneider, Bernard F., Lovell, Mark A., Golden, Wendy L.

“…Primary bronchopulmonary leiomyosarcoma (PBLMS) is a rare malignant neoplasm in all age groups and only 10 pediatric cases of PBLMS have been reported. This…”
Get full text