Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 8

Results: 50

Genetic cause of rare disease may be involved in more common birth defects.

Published in:: 2011
Publication type:: Other

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1825, doi. 10.1002/ajmg.a.33952

By:

Granot-Hershkovitz, Einat;
Raas-Rothschild, Annick;
Frumkin, Ayala;
Granot, David;
Silverstein, Shira;
Abeliovich, Dvorah

Publication type:

Article

Rebuttal to the invited comment of Opitz and Carey.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2037, doi. 10.1002/ajmg.a.34112

By:

McBride, Kim L.

Publication type:

Article

Duplication of the STS region in males is a benign copy-number variant.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1972, doi. 10.1002/ajmg.a.33985

By:

Furrow, Aubry;
Theisen, Aaron;
Velsher, Lea;
Bawle, Erawati V.;
Sastry, Sujatha;
Mendelsohn, Nancy J.;
Jarvis, Kristi;
Shaffer, Lisa G.;
Chitayat, David

Publication type:

Article

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2031, doi. 10.1002/ajmg.a.34105

By:

Mosca, A.L.;
Callier, P.;
Faivre, L.;
Laurent, N.;
Rousseau, T.;
Marle, N.;
Payet, M.;
Guy, H.;
Couvreur, S.;
Masurel-Paulet, A.;
Sagot, P.;
Thauvin-Robinet, C.;
Mugneret, F.

Publication type:

Article

Reaching across the disability divide: The case for collaboration with the disability community to construct a robust informed consent process around prenatal screening and diagnosis.

Published in:

2011

By:

Bauer, Patricia E.

Publication type:

Editorial

Are genetic counselors just misunderstood? Thoughts on 'The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary'.

Published in:

2011

By:

Resta, Robert

Publication type:

Editorial

Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2011, doi. 10.1002/ajmg.a.34064

By:

Walker, Linda C.;
Ju, Elizabeth M.;
Yeowell, Heather N.

Publication type:

Article

Trisomy 13 (Patau syndrome) and craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2018, doi. 10.1002/ajmg.a.34086

By:

Rosa, Rafael F.M.;
Rosa, Rosana C.M.;
Flores, José A.M.;
Chazan, Daniel T.;
Dietrich, Cristine;
de Barth, Mariana B.;
Carpes, Vanessa F.;
da Cunha, André C.;
Graziadio, Carla;
Zen, Paulo R.G.

Publication type:

Article

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1848, doi. 10.1002/ajmg.a.34057

By:

Skidmore, David L.;
Chitayat, David;
Morgan, Tim;
Hinek, Alek;
Fischer, Bjoern;
Dimopoulou, Aikaterini;
Somers, Gino;
Halliday, William;
Blaser, Susan;
Diambomba, Yenge;
Lemire, Edmond G.;
Kornak, Uwe;
Robertson, Stephen P.

Publication type:

Article

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1981, doi. 10.1002/ajmg.a.34079

By:

Gerber, J.C.;
Neuhann, T.M.;
Tyshchenko, N.;
Smitka, M.;
Hackmann, K.

Publication type:

Article

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100

By:

Rosenfeld, Jill A.;
Drautz, Joanne Milisa;
Clericuzio, Carol L.;
Cushing, Tom;
Raskin, Salmo;
Martin, Judith;
Tervo, Raymond C.;
Pitarque, Jose A.;
Nowak, Dorota M.;
Karolak, Justyna A.;
Lamb, Allen N.;
Schultz, Roger A.;
Ballif, Blake C.;
Bejjani, Bassem A.;
Gajecka, Marzena;
Shaffer, Lisa G.

Publication type:

Article

Embracing the unique role of genetic counselors: Response to the commentary by Madeo et al.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1791, doi. 10.1002/ajmg.a.34111

By:

Dent, K.M.;
Harper, C.;
Kearney, L.;
Lieber, C.;
Finucane, B.

Publication type:

Article

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2003, doi. 10.1002/ajmg.a.34122

By:

Stettner, Georg M.;
Shoukier, Moneef;
Höger, Christoph;
Brockmann, Knut;
Auber, Bernd

Publication type:

Article

Revisiting recombinant 8 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1923, doi. 10.1002/ajmg.a.34104

By:

Pickler, Laura;
Wilson, Rebecca;
Tsai, Anne C-H

Publication type:

Article

Delineation of dermatan 4- O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1949, doi. 10.1002/ajmg.a.34115

By:

Shimizu, Kenji;
Okamoto, Nobuhiko;
Miyake, Noriko;
Taira, Katsuaki;
Sato, Yumiko;
Matsuda, Keiko;
Akimaru, Noriko;
Ohashi, Hirofumi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Matsumoto, Naomichi;
Kosho, Tomoki

Publication type:

Article

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1865, doi. 10.1002/ajmg.a.34081

By:

Osbun, Nathan;
Li, Jiang;
O'Driscoll, Mary C.;
Strominger, Zoe;
Wakahiro, Mari;
Rider, Eric;
Bukshpun, Polina;
Boland, Elena;
Spurrell, Cailyn H.;
Schackwitz, Wendy;
Pennacchio, Len A.;
Dobyns, William B.;
Black, Graeme C.M.;
Sherr, Elliott H.

Publication type:

Article

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1833, doi. 10.1002/ajmg.a.34005

By:

Iwanowski, Piotr S.;
Panasiuk, Barbara;
Van Buggenhout, Griet;
Murdolo, Marina;
Myśliwiec, Marta;
Maas, Nicole M.C.;
Lattante, Serena;
Korniszewski, Lech;
Posmyk, Renata;
Pilch, Jacek;
Zajączek, Stanislaw;
Fryns, Jean-Pierre;
Zollino, Marcella;
Midro, Alina T.

Publication type:

Article

Megacystis, megacolon, and malrotation: A new syndromic association?

Published in:

2011

By:

Pini Prato, A.;
Rossi, V.;
Fiore, M.;
Avanzini, S.;
Mattioli, G.;
Sanfilippo, F.;
Michelazzi, A.;
Borghini, S.;
Disma, N.;
Montobbio, G.;
Barabino, A.;
Nozza, P.;
Ceccherini, I.;
Gimelli, S.;
Jasonni, V.

Publication type:

Other

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2021, doi. 10.1002/ajmg.a.34096

By:

Vanwesemael, Maarten;
Schrauwen, Isabelle;
Ceuppens, Ruben;
Alasti, Fatemeh;
Jorssen, Ellen;
Farrokhi, Effat;
Chaleshtori, Morteza Hashemzadeh;
Van Camp, Guy

Publication type:

Article

The ancient Egyptian dwarfs of the pyramids: The high official and the female worker.

Published in:

2011

By:

Kozma, Chahira;
Sarry El Din, Azza Mohamed;
El Shafy El Banna, Rokia Abd;
El Samie Kandeel, Wafaa Abd;
Lachman, Ralph

Publication type:

Other

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1964, doi. 10.1002/ajmg.a.33210

By:

Nicoulaz, A.;
Rubi, F.;
Lieder, L.;
Wolf, R.;
Goeggel-Simonetti, B.;
Steinlin, M.;
Wiest, R.;
Bonel, H.M.;
Schaller, A.;
Gallati, S.;
Conrad, B.

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1959, doi. 10.1002/ajmg.a.34121

By:

Marom, Daphna;
Albin, Adi;
Schwartz, Charles;
Har-Zahav, Adi;
Straussberg, Rachel;
Bartel, Frank;
Birk, Efrat;
Inbar, Dov;
Basel-Vanagaite, Lina

Publication type:

Article

Bias in patient series with VACTERL association.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2039, doi. 10.1002/ajmg.a.33983

By:

Jenetzky, Ekkehart;
Wijers, Charlotte H.W.;
Marcelis, Carlo M.;
Zwink, Nadine;
Reutter, Heiko;
van Rooij, Iris A.L.M.

Publication type:

Article

Discovery of genetic susceptibility factors for human birth defects: An opportunity for a national agenda.

Published in:

2011

By:

Olshan, Andrew F.;
Hobbs, Charlotte A.;
Shaw, Gary M.

Publication type:

Editorial

Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1939, doi. 10.1002/ajmg.a.34114

By:

Lott, Ira T.;
Doran, Eric;
Nguyen, Vinh Q.;
Tournay, Anne;
Head, Elizabeth;
Gillen, Daniel L.

Publication type:

Article

Table of Contents, Volume 155, Number 8, August 2011.

Published in:: 2011
Publication type:: Other

A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1897, doi. 10.1002/ajmg.a.34091

By:

Moffett, Alexander;
Ross, Lainie Friedman

Publication type:

Article

Monozygotic twins with variable expression of Van der Woude Syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2008, doi. 10.1002/ajmg.a.34022

By:

Jobling, Rebekah;
Ferrier, Raechel A.;
McLeod, Ross;
Petrin, Aline Lourenco;
Murray, Jeffrey C.;
Thomas, Mary Ann

Publication type:

Article

Constructing 'best interests': Genetic testing of children in families with hypertrophic cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1930, doi. 10.1002/ajmg.a.34107

By:

Geelen, Els;
Van Hoyweghen, Ine;
Doevendans, Pieter A.;
Marcelis, Carlo L.M.;
Horstman, Klasien

Publication type:

Article

Masticatory muscle defects in hemifacial microsomia: A new embryological concept.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1991, doi. 10.1002/ajmg.a.34095

By:

Heude, Églantine;
Rivals, Isabelle;
Couly, Gérard;
Levi, Giovanni

Publication type:

Article

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1976, doi. 10.1002/ajmg.a.34077

By:

Garshasbi, Masoud;
Kahrizi, Kimia;
Hosseini, Masoumeh;
Nouri Vahid, Leila;
Falah, Masoumeh;
Hemmati, Sahel;
Hu, Hao;
Tzschach, Andreas;
Ropers, Hans Hilger;
Najmabadi, Hossein;
Kuss, Andreas Walter

Publication type:

Article

Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2028, doi. 10.1002/ajmg.a.34099

By:

Kędzierska, Karolina;
Kwiatkowski, Sebastian;
Torbé, Andrzej;
Marchelek-Myśliwiec, Małgorzata;
Marcinkiewicz, Oliwia;
Bobrek-Lesiakowska, Katarzyna;
Gołembiewska, Edyta;
Kwiatkowska, Ewa;
Rzepka, Rafał;
Ciechanowski, Kazimierz;
Czajka, Ryszard;
Santer, René

Publication type:

Article

New legal model suggested for DNA samples given to biobanks.

Published in:: 2011
Publication type:: Other

Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2042, doi. 10.1002/ajmg.a.33982

By:

Solomon, Benjamin D.;
Raam, Manu S.;
Pineda-Alvarez, Daniel E.;
Cummings, Derek A.T.

Publication type:

Article

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1917, doi. 10.1002/ajmg.a.34102

By:

Horn, Denise;
Krawitz, Peter;
Mannhardt, Anca;
Korenke, Georg Christoph;
Meinecke, Peter

Publication type:

Article

The FRAXopathies: Definition, overview, and update.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1803, doi. 10.1002/ajmg.a.34113

By:

Pirozzi, Filomena;
Tabolacci, Elisabetta;
Neri, Giovanni

Publication type:

Article

Book review.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2035, doi. 10.1002/ajmg.a.34124

By:

Sperber, Geoffrey H.;
Sperber, Steven M.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 8, August 2011.

Published in:: 2011
Publication type:: Other

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1884, doi. 10.1002/ajmg.a.34090

By:

Torgyekes, Edina;
Shanske, Alan L.;
Anyane-Yeboa, Kwame;
Nahum, Odelia;
Pirzadeh, Sara;
Blumfield, Einat;
Jobanputra, Vaidehi;
Warburton, Dorothy;
Levy, Brynn

Publication type:

Article

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1996, doi. 10.1002/ajmg.a.34106

By:

Cajaiba, Mariana M.;
Witchel, Selma;
Madan-Khetarpal, Suneeta;
Hoover, Jaqueline;
Hoffner, Lori;
Macpherson, Trevor;
Surti, Urvashi

Publication type:

Article

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1857, doi. 10.1002/ajmg.a.34072

By:

Kuechler, Alma;
Buysse, Karen;
Clayton-Smith, Jill;
Le Caignec, Cédric;
David, Albert;
Engels, Hartmut;
Kohlhase, Jürgen;
Mari, Francesca;
Mortier, Geert;
Renieri, Alessandra;
Wieczorek, Dagmar

Publication type:

Article

The relationship between the genetic counseling profession and the disability community: A commentary.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1777, doi. 10.1002/ajmg.a.34054

By:

Madeo, Anne C.;
Biesecker, Barbara B.;
Brasington, Campbell;
Erby, Lori H.;
Peters, Kathryn F.

Publication type:

Article

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1987, doi. 10.1002/ajmg.a.34094

By:

Pilozzi-Edmonds, Laura;
Maher, Thomas A.;
Basran, Raveen K.;
Milunsky, Aubrey;
Al-Thihli, Khalid;
Braverman, Nancy E.;
Alfares, Ahmed

Publication type:

Article

Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2044, doi. 10.1002/ajmg.a.34065

By:

Donsante, Anthony;
Johnson, Paul;
Jansen, Laura A.;
Kaler, Stephen G.

Publication type:

Article

Achondroplasia with synostosis of multiple sutures.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1969, doi. 10.1002/ajmg.a.33744

By:

Georgoulis, George;
Alexiou, George;
Prodromou, Neofytos

Publication type:

Article

A pigmentary skin defect is a new finding in Marshall-Smith syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2015, doi. 10.1002/ajmg.a.34076

By:

Passalacqua, Cristóbal;
Melo, Camila;
Martín, Luz María;
Rojas, Francisca;
Sanz, Patricia;
Taucher, Silvia Castillo;
Aranibar, Ligia

Publication type:

Article

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1877, doi. 10.1002/ajmg.a.34087

By:

Rosenberg, Philip S.;
Tamary, Hannah;
Alter, Blanche P.

Publication type:

Article

Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2024, doi. 10.1002/ajmg.a.34098

By:

Boone, Philip M.;
Reiter, Russel J.;
Glaze, Daniel G.;
Tan, Dun-Xian;
Lupski, James R.;
Potocki, Lorraine

Publication type:

Article