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Publisher: Wiley-Blackwell

Volume 170, Number 3, 1 March 2016

In this issue
pp. 558-558(1)

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Generating a taxonomy for genetic conditions relevant to reproductive planning
pp. 565-573(9)
Authors: Korngiebel, Diane M.; McMullen, Carmit K.; Amendola, Laura M.; Berg, Jonathan S.; Davis, James V.; Gilmore, Marian J.; Harding, Cary O.; Himes, Patricia; Jarvik, Gail P.; Kauffman, Tia L.; Kennedy, Kathleen A.; Simpson, Dana Kostiner; Leo, Michael C.; Lynch, Frances L.; Quigley, Denise I.; Reiss, Jacob A.; Richards, C. Sue; Rope, Alan F.; Schneider, Jennifer L.; Goddard, Katrina A. B.; Wilfond, Benjamin S.

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Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing
pp. 574-582(9)
Authors: Leo, Michael C.; McMullen, Carmit; Wilfond, Benjamin S.; Lynch, Frances L.; Reiss, Jacob A.; Gilmore, Marian J.; Himes, Patricia; Kauffman, Tia L.; Davis, James V.; Jarvik, Gail P.; Berg, Jonathan S.; Harding, Cary; Kennedy, Kathleen A.; Simpson, Dana Kostiner; Quigley, Denise I.; Richards, C. Sue; Rope, Alan F.; Goddard, Katrina A. B.

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Multigenerational autosomal dominant inheritance of 5p chromosomal deletions
pp. 583-593(11)
Authors: Zhang, Bin; Willing, Marcia; Grange, Dorothy K.; Shinawi, Marwan; Manwaring, Linda; Vineyard, Marisa; Kulkarni, Shashikant; Cottrell, Catherine E.

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Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings
pp. 594-601(8)
Authors: Johnson, Lisa; Manzardo, Ann M.; Miller, Jennifer L.; Driscoll, Daniel J.; Butler, Merlin G.

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Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates
pp. 602-609(8)
Authors: Deeb, Asma; Habeb, Abdelhadi; Kaplan, Walid; Attia, Salima; Hadi, Suha; Osman, Amani; Al‐Jubeh, Jamal; Flanagan, Sarah; DeFranco, Elisa; Ellard, Sian

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Body proportions in children with Kabuki syndrome
pp. 610-614(5)
Authors: Penders, Bas; Schott, Nina; Gerver, Willem‐Jan M.; Stumpel, Constance T. R. M.

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A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation
pp. 615-621(7)
Authors: Ibrahim, Daniel M.; Tayebi, Naeimeh; Knaus, Alexej; Stiege, Asita C.; Sahebzamani, Afsaneh; Hecht, Jochen; Mundlos, Stefan; Spielmann, Malte

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Rare copy number variants implicated in posterior urethral valves
pp. 622-633(12)
Authors: Boghossian, Nansi S.; Sicko, Robert J.; Kay, Denise M.; Rigler, Shannon L.; Caggana, Michele; Tsai, Michael Y.; Yeung, Edwina H.; Pankratz, Nathan; Cole, Benjamin R.; Druschel, Charlotte M.; Romitti, Paul A.; Browne, Marilyn L.; Fan, Ruzong; Liu, Aiyi; Brody, Lawrence C.; Mills, James L.

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MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis
pp. 634-644(11)
Authors: Regier, Debra S.; Kwon, Hyuk Joon; Johnston, Jean; Golas, Gretchen; Yang, Sandra; Wiggs, Edythe; Latour, Yvonne; Thomas, Sarah; Portner, Cindy; Adams, David; Vezina, Gilbert; Baker, Eva H.; Tifft, Cynthia J.

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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods
pp. 645-653(9)
Authors: Epstein, Amy; Leonard, Helen; Davis, Elise; Williams, Katrina; Reddihough, Dinah; Murphy, Nada; Whitehouse, Andrew; Downs, Jenny

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Sleep disturbance in Mowat–Wilson syndrome
pp. 654-660(7)
Authors: Evans, Elizabeth; Mowat, David; Wilson, Meredith; Einfeld, Stewart

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Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome
pp. 661-664(4)
Authors: Radio, Francesca Clementina; Digilio, Maria Cristina; Capolino, Rossella; Dentici, Maria Lisa; Unolt, Marta; Alesi, Viola; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

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Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review
pp. 665-669(5)
Authors: Calcagni, Giulio; Baban, Anwar; De Luca, Enrica; Leonardi, Benedetta; Pongiglione, Giacomo; Digilio, Maria Cristina

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Clinical delineation of the PACS1‐related syndrome—Report on 19 patients
pp. 670-675(6)
Authors: Schuurs‐Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville‐Heygate, Stephanie; Hanson‐Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David; Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van der Aa, Nathalie; Kooy, Frank; Brown, Kate Tatton; Gadzicki, Dorothea; Kini, Usha; Alvarez, Sara; Fernández‐Jaén, Alberto; McGehee, Frank; Selby, Katherine; Tarailo‐Graovac, Maja; Van Allen, Margot; van Karnebeek, Clara D. M.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Merico, Daniele; Gregor, Anne; Zweier, Christiane; Hopkin, Robert J.; Chu, Yoyo Wing‐Yiu; Chung, Brian Hon‐Yin; de Vries, Bert B. A.; Devriendt, Koenraad; Hurles, Matthew E.; Brunner, Han G.; -cr, DDD studyajmga3

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Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses
pp. 676-687(12)
Authors: Castori, Marco; Servadei, Francesca; Laino, Luigi; Pascolini, Giulia; Fabbri, Romano; Cifani, Anna Elisabetta; Sforzolini, Giovanna Scassellati; Silvestri, Evelina; Grammatico, Paola

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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
pp. 694-698(5)
Authors: Posey, Jennifer E.; Mohrbacher, Nikki; Smith, Janice L.; Patel, Ankita; Potocki, Lorraine; Breman, Amy M.

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BRAT1‐related disease—identification of a patient without early lethality
pp. 699-702(4)
Authors: Mundy, Sheraden A.; Krock, Bryan L.; Mao, Rong; Shen, Joseph J.

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KIAA2022 nonsense mutation in a symptomatic female
pp. 703-706(4)
Authors: Farach, Laura S.; Northrup, Hope

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Gershoni‐Baruch syndrome: First report of a surviving child
pp. 707-711(5)
Authors: Valfrè, Laura; Baban, Anwar; Digilio, Maria Cristina; Bevilacqua, Francesca; Bagolan, Pietro; Conforti, Andrea

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Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features
pp. 712-716(5)
Authors: Nimmo, Graeme A. M.; Guerin, Andrea; Badilla‐Porras, Ramses; Stavropoulos, Dimitri J.; Yoon, Grace; Carter, Melissa T.

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Dual genetic diagnoses: Atypical hand‐foot‐genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
pp. 717-724(8)
Authors: Wallis, Mathew; Tsurusaki, Yoshinori; Burgess, Trent; Borzi, Peter; Matsumoto, Naomichi; Miyake, Noriko; True, Deanna; Patel, Chirag

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Massive hemoptysis in Loeys–Dietz syndrome
pp. 725-727(3)
Authors: Bennett, Christopher L.; Aziz, Hamza; Sparks, Elizabeth; Shah, Trushil; Yoder, Mark; MacCarrick, Gretchen; Dietz, Harry C.

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A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
pp. 728-733(6)
Authors: Yigit, Gökhan; Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Möller‐Hartmann, Claudia; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Wollnik, Bernd

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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
pp. 734-742(9)
Authors: Thomas‐Teinturier, Cecile; Pereda, Arrate; Garin, Intza; Diez‐Lopez, Ignacio; Linglart, Agnès; Silve, Caroline; de Nanclares, Guiomar Pérez

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Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features
pp. 743-749(7)
Authors: Carrera, Ignacio Arroyo; de Zaldívar, María Solo; Martín, Rebeca; Begemann, Matthias; Soellner, Lukas; Eggermann, Thomas

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Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies
pp. 750-753(4)
Authors: Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.

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Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome
pp. 754-759(6)
Authors: Jones, Gabriela E.; Robertson, Lisa; Maniyar, Amit; Shammas, Christos; Phelan, Marie M.; Vasudevan, Pradeep C.; Tanteles, George A.

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A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
pp. 760-765(6)
Authors: Smith, Christopher; Lamont, Ryan E.; Wade, Andrew; Bernier, Francois P.; Parboosingh, Jillian S.; Innes, A. Micheil

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Genotype‐phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
pp. 766-772(7)
Authors: Fontes, Marshall I. B.; Santos, Ana P.; Molck, Miriam C.; Simioni, Milena; Nascimento, Diogo L. L.; Andrade, Ana K. M.; Rosenberg, Carla; Krepischi, Ana C. V.; Appenzeller, Simone; Monlleó, Isabella L.; Gil‐da‐Silva‐Lopes, Vera Lúcia

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Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome
pp. 773-776(4)
Authors: Wilson, Brian T.; Lochan, Anneline; Stark, Zornitza; Sutton, Ruth E.

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Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation
pp. 777-780(4)
Authors: Motta, Serena; Sala, Debora; Sala, Alessandra; Cazzaniga, Giovanni; Giudici, Giovanni; Villa, Nicoletta; Biondi, Andrea; Selicorni, Angelo

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SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings
pp. 781-784(4)
Authors: Preiksaitiene, Egle; Benušienė, Eglė; Matulevičienė, Aušra; Grigalionienė, Kristina; Utkus, Algirdas; Kučinskas, Vaidutis

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A new case of bent bone dysplasia—FGFR2 type and review of the literature
pp. 785-789(5)
Authors: Stichelbout, Morgane; Dieux‐Coeslier, Anne; Clouqueur, Elodie; Collet, Corinne; Petit, Florence

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Hepatoblastoma in a male with MECP2 duplication syndrome
pp. 790-791(2)
Authors: Trobaugh‐Lotrario, Angela; Martin, Judith; López‐Terrada, Dolores

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Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion
pp. 792-794(3)
Authors: Thümmler, Susanne; Giuliano, Fabienne; Karmous‐Benailly, Houda; Richelme, Christian; Fernandez, Arnaud; De Georges, Christine; Askenazy, Florence

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Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo‐epiphyseal dysplasia mimicking autosomal dominant brachyolmia
pp. 795-798(4)
Authors: Takagi, Masaki; Shimizu, Mika; Suzuki, Eri; Shinohara, Hiroyuki; Narumi, Satoshi; Hasegawa, Tomonobu; Nishimura, Gen; Hasegawa, Yukihiro

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Depression and hyperactivity in two patients with craniofrontonasal syndrome
pp. 799-800(2)
Authors: Fischer, Matthias; Bänsch, Patricia‐Stefanie; Unterecker, Stefan; Romanos, Marcel; Deckert, Jürgen

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Mild humoral immunodeficiency in a patient with X‐linked Kabuki syndrome
pp. 801-803(3)
Authors: Frans, Glynis; Meyts, Isabelle; Devriendt, Koen; Liston, Adrian; Vermeulen, François; Bossuyt, Xavier

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Phenotypes of 8q13.2–q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome
pp. 804-808(5)
Authors: Hamilton, Mark J.; Sarkar, Ajoy; Dixit, Abhijit; Marder, Elizabeth

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Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation
pp. 811-812(2)
Authors: Vorselaars, Veronique M. M.; Velthuis, Sebastiaan; Snijder, Repke J.; Mager, Johannes J.; Post, Martijn C.

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Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation
pp. 813-813(1)
Authors: Heald, Brandie; Rigelsky, Christina; Moran, Rocio; LaGuardia, Lisa; O'Malley, Margaret; Burke, Carol A.; Zahka, Kenneth

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