Skip to main content
padlock icon - secure page this page is secure

Publisher: Wiley-Blackwell

Volume 164, Number 9, 1 September 2014

In this issue
pp. x-x(1)

Favourites:
ADD

Cono‐spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder
pp. 2147-2152(6)
Authors: Ben‐Omran, Tawfeg; Lakhani, Shenela; Almureikhi, Mariam; Ali, Rehab; Takahashi, Atsushi; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro; Superti‐Furga, Andrea; Unger, Sheila

Favourites:
ADD

Attitudes of non‐African American focus group participants toward return of results from exome and whole genome sequencing
pp. 2153-2160(8)
Authors: Yu, Joon‐Ho; Crouch, Julia; Jamal, Seema M.; Bamshad, Michael J.; Tabor, Holly K.

Favourites:
ADD

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
pp. 2161-2171(11)
Authors: Poulton, Cathryn J.; Schot, Rachel; Seufert, Katja; Lequin, Maarten H.; Accogli, Andrea; Annunzio, Giuseppe D'; Villard, Laurent; Philip, Nicole; de Coo, René; Catsman‐Berrevoets, Coriene; Grasshoff, Ute; Kattentidt‐Mouravieva, Anja; Calf, Hans; de Vreugt‐Gronloh, Erika; van Unen, Leontine; Verheijen, Frans W.; Galjart, Niels; Morris‐Rosendahl, Deborah J.; Mancini, Grazia M. S.

Favourites:
ADD

The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients
pp. 2172-2179(8)
Authors: Nishimoto, Hiromi Koso; Ha, Kyungsoo; Jones, Julie R.; Dwivedi, Alka; Cho, Hyun‐Min; Layman, Lawrence C.; Kim, Hyung‐Goo

Favourites:
ADD

Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases
pp. 2180-2186(7)
Authors: Ogata, Hiroyuki; Ihara, Hiroshi; Murakami, Nobuyuki; Gito, Masao; Kido, Yasuhiro; Nagai, Toshiro

Favourites:
ADD

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data
pp. 2187-2199(13)
Authors: Langlois, Peter H.; Moffitt, Karen B.; Scheuerle, Angela E.

Favourites:
ADD

Stuve–Wiedemann syndrome: Is it underrecognized?
pp. 2200-2205(6)
Authors: Yeşil, Gözde; Lebre, Anne Sophie; Santos, Sofia Dos; Güran, Ömer; Özahi, Ilke Ipek; Daire, Valeria Cormier; Güran, Tülay

Favourites:
ADD

Association between macroorchidism and intelligence in FMR1 premutation carriers
pp. 2206-2211(6)
Authors: Lozano, Reymundo; Summers, Scott; Lozano, Cristina; Mu, Yi; Hessl, David; Nguyen, Danh; Tassone, Flora; Hagerman, Randi

Favourites:
ADD

Maternal exposure to methotrexate and birth defects: A population‐based study
pp. 2212-2216(5)
Authors: Dawson, April L.; Riehle‐Colarusso, Tiffany; Reefhuis, Jennita; Arena, J. Fernando; the National Birth Defects Prevention Studyajmga36625-cr-0005

Favourites:
ADD

Skin findings in Williams syndrome
pp. 2217-2225(9)
Authors: Kozel, Beth A.; Bayliss, Susan J.; Berk, David R.; Waxler, Jessica L.; Knutsen, Russell H.; Danback, Joshua R.; Pober, Barbara R.

Favourites:
ADD

QOL in caregivers of Japanese patients with Prader–Willi syndrome with reference to age and genotype
pp. 2226-2231(6)
Authors: Ihara, Hiroshi; Ogata, Hiroyuki; Sayama, Masayuki; Kato, Aya; Gito, Masao; Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro

Favourites:
ADD

A double‐blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome
pp. 2232-2239(8)
Authors: Einfeld, Stewart L.; Smith, Ellie; McGregor, Iain S.; Steinbeck, Kate; Taffe, John; Rice, Lauren J.; Horstead, Siân K.; Rogers, Naomi; Hodge, M. Antoinette; Guastella, Adam J.

Favourites:
ADD

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
pp. 2240-2249(10)
Authors: Gripp, Karen W.; Curry, Cynthia; Olney, Ann Haskins; Sandoval, Claudio; Fisher, Jamie; Chong, Jessica Xiao‐Ling; UW Center for Mendelian Genomicsajmga36633-cr-0007ajmga36633-aff-0006; Pilchman, Lisa; Sahraoui, Rebecca; Stabley, Deborah L.; Sol‐Church, Katia

Favourites:
ADD

Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB)
pp. 2250-2255(6)
Authors: Venkatramani, Rajkumar; Spector, Logan G.; Georgieff, Michael; Tomlinson, Gail; Krailo, Mark; Malogolowkin, Marcio; Kohlmann, Wendy; Curtin, Karen; Fonstad, Rachel K.; Schiffman, Joshua D.

Favourites:
ADD

Are 22q11.2 distal deletions associated with math difficulties?
pp. 2256-2262(7)
Authors: Carvalho, Maria Raquel Santos; Vianna, Gabrielle; Oliveira, Lívia de Fátima Silva; Costa, Annelise Julio; Pinheiro‐Chagas, Pedro; Sturzenecker, Rosane; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado; de Aguiar, Marcos José Burle; Haase, Vitor Geraldi

Favourites:
ADD

The Habsburg Jaw—Re‐examined
pp. 2263-2269(7)
Authors: Peacock, Zachary S.; Klein, Katherine P.; Mulliken, John B.; Kaban, Leonard B.

Favourites:
ADD

Radiographic evaluation of stillbirth: What does it contribute?
pp. 2270-2275(6)
Authors: Swenson, Erica; Schema, Lynn; McPherson, Elizabeth

Favourites:
ADD

Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature
pp. 2276-2286(11)
Authors: Herlin, Morten; Højland, Allan T.; Petersen, Michael B.

Favourites:
ADD

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis
pp. 2287-2293(7)
Authors: Mumm, Steven; Huskey, Margaret; Duan, Shenghui; Wenkert, Deborah; Madson, Katherine L.; Gottesman, Gary S.; Nenninger, Angela R.; Laxer, Ronald M.; McAlister, William H.; Whyte, Michael P.

Favourites:
ADD

Donor splice‐site mutation in CUL4B is likely cause of X‐linked intellectual disability
pp. 2294-2299(6)
Authors: Londin, Eric R.; Adijanto, Jeffrey; Philp, Nancy; Novelli, Antonio; Vitale, Emilia; Perria, Chiara; Serra, Gigliola; Alesi, Viola; Surrey, Saul; Fortina, Paolo

Favourites:
ADD

Growth charts for individuals with Rubinstein–Taybi syndrome
pp. 2300-2309(10)
Authors: Beets, Lex; Rodríguez‐Fonseca, Cristina; Hennekam, Raoul C.

Favourites:
ADD

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
pp. 2310-2316(7)
Authors: Gos, Monika; Fahiminiya, Somayyeh; Poznański, Jarosław; Klapecki, Jakub; Obersztyn, Ewa; Piotrowicz, Małgorzata; Wierzba, Jolanta; Posmyk, Renata; Bal, Jerzy; Majewski, Jacek

Favourites:
ADD

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
pp. 2317-2323(7)
Authors: Nampoothiri, Sheela; Yesodharan, Dhanya; Sainulabdin, Gazel; Narayanan, Dhanyalakshmi; Padmanabhan, Laxmi; Girisha, Katta Mohan; Cathey, Sara S.; De Paepe, Anne; Malfait, Fransiska; Syx, Delfien; Hennekam, Raoul C.; Bonafe, Luisa; Unger, Sheila; Superti‐Furga, Andrea

Favourites:
ADD

Whole ARX gene duplication is compatible with normal intellectual development
pp. 2324-2327(4)
Authors: Popovici, Cornel; Busa, Tiffany; Boute, Odile; Thuresson, Ann‐Charlotte; Perret, Odile; Sigaudy, Sabine; Södergren, Tommy; Andrieux, Joris; Moncla, Anne; Philip, Nicole

Favourites:
ADD

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
pp. 2328-2334(7)
Authors: Bayram, Yavuz; Pehlivan, Davut; Karaca, Ender; Gambin, Tomasz; Jhangiani, Shalini N.; Erdin, Serkan; Gonzaga‐Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna; Baylor‐Hopkins Center for Mendelian Genomicsajmga36678-cr-0010; Elcioglu, Nursel H.; Yildirim, M. Selman; Bozkurt, Banu; Zamani, Ayse Gul; Boerwinkle, Eric; Gibbs, Richard A.; Lupski, James R.

Favourites:
ADD

De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability
pp. 2335-2337(3)
Authors: Tabet, Anne‐Claude; Leroy, Camille; Dupont, Céline; Serrano, Emilie; Hernandez, Karen; Gallard, Jennifer; Pouvreau, Nathalie; Gadisseux, Jean‐François; Benzacken, Brigitte; Verloes, Alain

Favourites:
ADD

A child with split‐hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3
pp. 2338-2343(6)
Authors: Al Kaissi, Ali; Ganger, Rudolf; Rötzer, Katharina M.; Klaushofer, Klaus; Grill, Franz

Favourites:
ADD

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10
pp. 2344-2350(7)
Authors: Pingault, Veronique; Pierre‐Louis, Laurence; Chaoui, Asma; Verloes, Alain; Sarrazin, Elisabeth; Brandberg, Goran; Bondurand, Nadege; Uldall, Peter; Manouvrier‐Hanu, Sylvie

Favourites:
ADD

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype
pp. 2351-2355(5)
Authors: Edwards, Jonathan J.; Martinelli, Simone; Pannone, Luca; Lo, Ivan Fai‐Man; Shi, Lisong; Edelmann, Lisa; Tartaglia, Marco; Luk, Ho‐Ming; Gelb, Bruce D.

Favourites:
ADD

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism
pp. 2356-2359(4)
Authors: Dhamija, Radhika; Kirmani, Salman; Wang, Xiangling; Ferber, Matthew J.; Wieben, Eric D.; Lazaridis, Konstantinos N.; Babovic‐Vuksanovic, Dusica

Favourites:
ADD

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
pp. 2360-2364(5)
Authors: Cohen, Ana S. A.; Townsend, Katelin N.; Xiang, Qing‐San; Attariwala, Raj; Borchers, Christof; Senger, Christof; Picker, Wayne; Levi, Jasna; Yewchuk, Lila; Tan, Joelle; Eydoux, Patrice; Lum, Amy; Yong, Siu‐Li; McKinnon, Margaret L.; Lear, Scott A.; Everett, Robert; Jones, Steven J. M.; Yip, Stephen; Gibson, William T.

Favourites:
ADD

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity
pp. 2365-2369(5)
Authors: Castiglioni, Claudia; Bertini, Enrico; Orellana, Paulina; Villarroel, Cynthia; Las Heras, Facundo; Hinzpeter, Daniel; Paolinelli, Paola; Bevilacqua, Jorge A.; Alvarez, Karin

Favourites:
ADD

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation
pp. 2370-2377(8)
Authors: Kantaputra, Piranit Nik; Kaewgahya, Massupa; Wiwatwongwana, Atchareeya; Wiwatwongwana, Damrong; Sittiwangkul, Rekwan; Iamaroon, Anak; Dejkhamron, Prapai

Favourites:
ADD

Cytogenomic delineation and clinical follow‐up of two siblings with an 8.5 Mb 6q24.2‐q25.2 deletion inherited from a paternal insertion
pp. 2378-2384(7)
Authors: Meloni, Vera Ayres; Guilherme, Roberta Santos; Oliveira, Mariana Moyses; Migliavacca, Michele; Takeno, Sylvia Satomi; Sobreira, Nara Lygia Macena; de Fatima Faria Soares, Maria; de Mello, Claudia Berlim; Melaragno, Maria Isabel

Favourites:
ADD

A 2q24.3q31.1 microdeletion found in a patient with Filippi‐like syndrome phenotype: A case report
pp. 2385-2387(3)
Authors: Lazier, Joanna; Chernos, Judy; Lowry, R. Brian

Favourites:
ADD

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
pp. 2388-2390(3)
Authors: Ozawa, Tadashi; Koide, Reiji; Nakata, Yasuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Takahashi, Kazushi; Nakano, Imaharu; Orimo, Satoshi

Favourites:
ADD

Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome
pp. 2391-2397(7)
Authors: Lindy, Amanda S.; Bupp, Caleb P.; McGee, Stephen J.; Steed, Erin; Stevenson, Roger E.; Basehore, Monica J.; Friez, Michael J.

Favourites:
ADD

Severe manifestations of hand‐foot‐genital syndrome associated with a novel HOXA13 mutation
pp. 2398-2402(5)
Authors: Imagawa, Eri; Kayserili, Hülya; Nishimura, Gen; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Ikegawa, Shiro; Matsumoto, Naomichi; Miyake, Noriko

Favourites:
ADD

Eight year follow‐up of an epidemic of sirenomelia in Cali, Colombia
pp. 2403-2403(1)
Authors: Saldarriaga, Wilmar; Isaza, Carolina; Castilla, Eduardo E.

Favourites:
ADD
Favourites:
ADD

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1
pp. 2407-2411(5)
Authors: Li, Bing; Krakow, Deborah; Nickerson, Deborah A.; Bamshad, Michael J.; University of Washington Center for Mendelian Genomicsajmga36640-cr-0005ajmga36640-aff-0005; Chang, Yong; Lachman, Ralph S.; Yilmaz, Alev; Kayserili, Hülya; Cohn, Daniel H.

Favourites:
ADD
Favourites:
ADD

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more