Search Results - "Shafeghati Y"

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly by Darvish, H, Esmaeeli-Nieh, S, Monajemi, G B, Mohseni, M, Ghasemi-Firouzabadi, S, Abedini, S S, Bahman, I, Jamali, P, Azimi, S, Mojahedi, F, Dehghan, A, Shafeghati, Y, Jankhah, A, Falah, M, Soltani Banavandi, M J, Ghani, M, Ghani-Kakhi, M, Garshasbi, M, Rakhshani, F, Naghavi, A, Tzschach, A, Neitzel, H, Ropers, H H, Kuss, A W, Behjati, F, Kahrizi, K, Najmabadi, H

“…Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head…”
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB by Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

“…Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently,…”
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LMNA mutations in atypical Werner's syndrome by Chen, Lishan, Lee, Lin, Kudlow, Brian A, Dos Santos, Heloisa G, Sletvold, Olav, Shafeghati, Yousef, Botha, Eleanor G, Garg, Abhimanyu, Hanson, Nancy B, Martin, George M, Mian, I Saira, Kennedy, Brian K, Oshima, Junko

“…Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies…”
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Supernumerary nipples in a Bartsocas-Papas patient in a consanguineous Iranian family by Shafeghati, Y, Karimi-Nejad, A, Karimi-Nejad, R

“…We report a patient with Bartsocas-Papas syndrome surviving at 3 months. Our patient has supernumerary nipples in addition to the anomalies described…”
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Tay-Sachs Disease; Report of 6 Iranian Patients and Review of Literature by Hadipour, Z., Shafeghati, Y., Tonekaboni, H., Verheijen, F.W., Rolfs, A., Hadipour, F.

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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18 by Bagherizadeh, Eiman, Behjati, Farkhondeh, Saberi, Seyed Hoseinali, Shafeghati, Yousef

“…We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with…”
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Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy by Hasanzad, Mandana, Golkar, Zahra, Kariminejad, Roxana, Hadavi, Valeh, Almadani, Navid, Afroozan, Fariba, Salahshurifar, Iman, Shafeghati, Yousef, Kahrizi, Kimia, Najmabadi, Hossein

“…Spinal muscular atrophy (SMA) is a common neuromuscular disorder with progressive paralysis caused by the loss of alpha-motor neurons in the spinal cord. The…”
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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer by Hajikhan Mirzaei, Mehri, Noruzinia, Mehrdad, Karbassian, Hamid, Shafeghati, Yousef, Keyhanee, Mousa, Bidmeshki-Pour, Ali

“…Breast cancer is one of the most common malignancies in women worldwide. It is caused by a number of genetic and epigenetic factors. Aberrant hypermethylation…”
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Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis by Daneshi, Ahmad, Shafeghati, Yousef, Karimi-Nejad, Mohammad Hassan, Khosravi, Amir, Farhang, Fariba

“…The objective of this study was to report on three members of a family with familial expansile osteolysis; the important point about these patients was that…”
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Clinical heterogeneity and chromosome breakage in Iranian patients suspicious of Fanconi anemia by Ghasemi Firoozabadi S, Shafeghati Y, Keyhani E, Kariminejad R, Oloomi Z, Moosavi F, Amini F, Najmabadi H, Behiati F

“…Background: Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by short stature, skeletal anomalies, increased incidence of solid tumors…”
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Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran by Y Shafeghati, N Levy, G.M Martin

“…Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time…”
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New findings in a patient with distal 13q by Karimi-Nejad, A, Shafeghati, Y, Karimi-Nejad, R, Nabavi-Nia, N, Kodoma, K, Karimi-Nejad, M H

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Cytogenetic analysis of 1284 cases of Down syndrome by M.H Kariminejhad, R Kariminejhad, F Azimi, N Nabavi nia, K Alavi, M.T Takyar, Y Shafeghati

“…Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome…”
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