OpenURL Connection Search

Select item for more details and to access through your institution.

Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.
Published in:
2002
By:
- Das, Bibhuti;
- Nagaraj, Anasuya;
- Fayemi, Ayodeji;
- Rajegowda, Benamanahalli;
- Giampietro, Philip;
- Das, Bibhuti B;
- Rajegowda, Benamanahalli K;
- Giampietro, Philip F
Publication type:
journal article
A Pilot Study of Gene/Gene and Gene/Environment Interactions in Alzheimer Disease.
Published in:
Clinical Medicine & Research, 2011, v. 9, n. 1, p. 17, doi. 10.3121/cmr.2010.894
By:
- Ghebranious, Nader;
- Mukesh, Bickol;
- Giampietro, Philip F.;
- Gluhch, Ingrid;
- Michel, Susan F.;
- Waring, Stephen C.;
- McCarty, Catherine A.
Publication type:
Article
Genetic Aspects of Congenital and Idiopathic Scoliosis.
Published in:
Scientifica, 2012, p. 1, doi. 10.6064/2012/152365
By:
- Giampietro, Philip F.
Publication type:
Article
Caudal Regression Syndrome Versus Sirenomelia: A Case Report.
Published in:
Journal of Perinatology, 2002, v. 22, n. 2, p. 168, doi. 10.1038/sj.jp.7210598
By:
- Das, Bibhuti B;
- Rajegowda, Benamanahalli K;
- Bainbridge, Ronald;
- Giampietro, Philip F
Publication type:
Article
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.
Published in:
2015
By:
- Liu, Sen;
- Wu, Nan;
- Liu, Jiaqi;
- Ming, Xuan;
- Chen, Jun;
- Pavelec, Derek;
- Su, Xinlin;
- Qiu, Guixing;
- Tian, Ye;
- Giampietro, Philip;
- Wu, Zhihong
Publication type:
Case Study
The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast.
Published in:
Journal of Genetic Counseling, 2024, v. 33, n. 5, p. 1026, doi. 10.1002/jgc4.1807
By:
- Roche, Kelly;
- Khan, Shama P.;
- Botti, Christina;
- Giampietro, Philip;
- Anderson, Sharon;
- Ashkinadze, Elena
Publication type:
Article
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
Published in:
Scoliosis (17487161), 2007, v. 2, p. 1, doi. 10.1186/1748-7161-2-13
By:
- Ghebranious, Nader;
- Raggio, Cathleen L.;
- Blank, Robert D.;
- McPherson, Elizabeth;
- Burmester, James K.;
- Ivacic, Lynn;
- Rasmussen, Kristen;
- Kislow, Jennifer;
- Glurich, Ingrid;
- Jacobsen, Stig F.;
- Faciszewski, Thomas;
- Pauli, Richard M.;
- Boachie-Adjei, Oheneba;
- Giampietro, Philip F.
Publication type:
Article
A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1078
By:
- Chanchani, Swati R.;
- Xie, Hongyan;
- Sekhon, Gurbax;
- Melikishvili, Ana M.;
- Moyer Harasink, Sue;
- Pall, Harpreet;
- Giampietro, Philip F.
Publication type:
Article
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 3, p. 337, doi. 10.1002/ajmg.c.31730
By:
- Dieterich, Klaus;
- Le Tanno, Pauline;
- Kimber, Eva;
- Jouk, Pierre‐Simon;
- Hall, Judith;
- Giampietro, Philip
Publication type:
Article
TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
By:
- Li, Guozhuang;
- Strong, Alanna;
- Wang, Haojun;
- Kim, Ji‐Sun;
- Watson, Deborah;
- Zhao, Sen;
- Vaccaro, Courtney;
- Hartung, Erum;
- Hakonarson, Hakon;
- Zhang, Terry Jianguo;
- Giampietro, Philip F.;
- Wu, Nan
Publication type:
Article
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 798, doi. 10.1002/ajmg.a.61465
By:
- Amlie‐Wolf, Louise;
- Moyer‐Harasink, Sue;
- Carr, Ann‐Marie;
- Giampietro, Philip;
- Schneider, Adele;
- Simon, Mitchell
Publication type:
Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
By:
- Giampietro, Philip F.;
- Pourquie, Olivier;
- Raggio, Cathy;
- Ikegawa, Shiro;
- Turnpenny, Peter D.;
- Gray, Ryan;
- Dunwoodie, Sally L.;
- Gurnett, Christina A.;
- Alman, Benjamin;
- Cheung, Kenneth;
- Kusumi, Kenro;
- Hadley‐Miller, Nancy;
- Wise, Carol A.
Publication type:
Article
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2808, doi. 10.1002/ajmg.a.38395
By:
- Legare, Janet M.;
- Seaborg, Kristin;
- Laffin, Jennifer;
- Giampietro, Philip F.
Publication type:
Article
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2776, doi. 10.1002/ajmg.a.38379
By:
- Reynolds, Kara K.;
- Juusola, Jane;
- Rice, Gregory M.;
- Giampietro, Philip F.
Publication type:
Article
Marfan syndrome patient experiences as ascertained through postings on social media sites.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2629, doi. 10.1002/ajmg.a.37255
By:
- Kelleher, Erin;
- Giampietro, Philip F.;
- Moreno, Megan A.
Publication type:
Article
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 95, doi. 10.1002/ajmg.a.36799
By:
- Giampietro, Philip F.;
- Armstrong, Linlea;
- Stoddard, Alex;
- Blank, Robert D.;
- Livingston, Janet;
- Raggio, Cathy L.;
- Rasmussen, Kristen;
- Pickart, Michael;
- Lorier, Rachel;
- Turner, Amy;
- Sund, Sarah;
- Sobrera, Nara;
- Neptune, Enid;
- Sweetser, David;
- Santiago‐Cornier, Alberto;
- Broeckel, Ulrich
Publication type:
Article
MECP2 duplication: Possible cause of severe phenotype in females.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1029, doi. 10.1002/ajmg.a.36380
By:
- Scott Schwoerer, Jessica;
- Laffin, Jennifer;
- Haun, Joanne;
- Raca, Gordana;
- Friez, Michael J.;
- Giampietro, Philip F.
Publication type:
Article
Novel mutation in TP 63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1432, doi. 10.1002/ajmg.a.35885
By:
- Giampietro, Philip F.;
- Baker, Mei W.;
- Basehore, Monica J.;
- Jones, Julie R.;
- Seroogy, Christine M.
Publication type:
Article
Clinical geneticists' views of VACTERL/VATER association.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3087, doi. 10.1002/ajmg.a.35638
By:
- Solomon, Benjamin D.;
- Bear, Kelly A.;
- Kimonis, Virginia;
- de Klein, Annelies;
- Scott, Daryl A.;
- Shaw-Smith, Charles;
- Tibboel, Dick;
- Reutter, Heiko;
- Giampietro, Philip F.
Publication type:
Article
A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations.
Published in:
Journal of Bone & Mineral Research, 2008, v. 23, n. 10, p. 1576, doi. 10.1359/jbmr.080503
By:
- Ghebranious, Nader;
- Blank, Robert D;
- Raggio, Cathleen L;
- Staubli, Justin;
- McPherson, Elizabeth;
- Ivacic, Lynn;
- Rasmussen, Kristen;
- Jacobsen, F Stig;
- Faciszewski, Thomas;
- Burmester, James K;
- Pauli, Richard M;
- Boachie-Adjei, Oheneba;
- Glurich, Ingrid;
- Giampietro, Philip F
Publication type:
Article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
Published in:
Annals of the New York Academy of Sciences, 2009, v. 1151, p. 38, doi. 10.1111/j.1749-6632.2008.03452.x
By:
- Giampietro, Philip F.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro;
- Pourquié, Olivier;
- Tassy, Olivier;
- Offiah, Amaka C.;
- Cornier, Alberto S.;
- Alman, Benjamin A.;
- Blank, Robert D.;
- Raggio, Cathleen L.;
- Glurich, Ingrid;
- Turnpenny, Peter D.
Publication type:
Article
Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.
Published in:
2003
By:
- Kutler, David I.;
- Wreesmann, Volkert B.;
- Goberdhan, Andy;
- Ben-Porat, Leah;
- Satagopan, Jaya;
- Ngai, Ivan;
- Huvos, Andrew G.;
- Giampietro, Philip;
- Levran, Orna;
- Pujara, Kanan;
- Diotti, Rafaella;
- Carlson, Diane;
- Huryn, Laryssa A.;
- Auerbach, Arleen D.;
- Singh, Bhuvanesh
Publication type:
journal article
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Published in:
Journal of International Medical Research, 2018, v. 46, n. 6, p. 2445, doi. 10.1177/0300060517747164
By:
- Zhenlei Liu;
- Jiaqi Liu;
- Gang Liu;
- Wenjian Cao;
- Sen Liu;
- Yixin Chen;
- Yuzhi Zuo;
- Weisheng Chen;
- Jun Chen;
- Yu Zhang;
- Shishu Huang;
- Guixing Qiu;
- Giampietro, Philip F.;
- Feng Zhang;
- Zhihong Wu;
- Nan Wu
Publication type:
Article
David B. Schowalter, MD, PhD March 25, 1960 - August 11, 2007.
Published in:
Wisconsin Medical Journal, 2007, v. 106, n. 8, p. 433
By:
- Giampietro, Philip F.;
- Zaleski, Christina;
- Wagner, Steve F.;
- Lindor, Noralane M.;
- Babovic-Vuksanovic, Dusica
Publication type:
Article
Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD's.
Published in:
Journal of Genetic Counseling, 2011, v. 20, n. 4, p. 396, doi. 10.1007/s10897-011-9364-y
By:
- McPherson, Elizabeth;
- Thomas, Ginger;
- Manlick, Christopher;
- Zaleski, Christina;
- Reynolds, Kara;
- Rasmussen, Kristen;
- Giampietro, Philip;
- Wiley, Carmen;
- Mascola, Maria
Publication type:
Article
Fanconi anemia: a model for genetic causes of abnormal brain development.
Published in:
1992
By:
- Pavlakis, Steven G.;
- Gould, Robert J.;
- Giampietro, Philip F.;
- Davis, Jessica G.;
- Auerbach, Arleen D.;
- Adler-Brecher, Barbara;
- Frissora, Christine L.;
- Pavlakis, S G;
- Frissora, C L;
- Giampietro, P F;
- Davis, J G;
- Gould, R J;
- Adler-Brecher, B;
- Auerbach, A D
Publication type:
journal article
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 19, p. 2913, doi. 10.1093/hmg/ddad117
By:
- Rebello, Denise;
- Wohler, Elizabeth;
- Erfani, Vida;
- Li, Guozhuang;
- Aguilera, Alexya N;
- Santiago-Cornier, Alberto;
- Zhao, Sen;
- Hwang, Steven W;
- Steiner, Robert D;
- Zhang, Terry Jianguo;
- Gurnett, Christina A;
- Raggio, Cathleen;
- Wu, Nan;
- Sobreira, Nara;
- Giampietro, Philip F;
- Ciruna, Brian
Publication type:
Article
Abnormal vertebral segmentation and the notch signaling pathway in man.
Published in:
Developmental Dynamics, 2007, v. 236, n. 6, p. 1456, doi. 10.1002/dvdy.21182
By:
- Peter D. Turnpenny;
- Ben Alman;
- Alberto S. Cornier;
- Philip F. Giampietro;
- Amaka Offiah;
- Olivier Tassy;
- Olivier Pourquié;
- Kenro Kusumi;
- Sally Dunwoodie
Publication type:
Article
Assessment of bone mineral density in adults and children with Marfan syndrome.
Published in:
Osteoporosis International, 2003, v. 14, n. 7, p. 559
By:
- Philip F. Giampietro;
- Margaret Peterson;
- Robert Schneider;
- Jessica G. Davis;
- Cathleen Raggio;
- Elizabeth Myers;
- Stephen W. Burke;
- Oheneba Boachie-Adjei;
- Charles M. Mueller
Publication type:
Article
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06705-0
By:
- Haller, Gabe;
- McCall, Kevin;
- Jenkitkasemwong, Supak;
- Sadler, Brooke;
- Antunes, Lilian;
- Nikolov, Momchil;
- Whittle, Julia;
- Upshaw, Zachary;
- Shin, Jimann;
- Baschal, Erin;
- Cruchaga, Carlos;
- Harms, Matthew;
- Raggio, Cathleen;
- Morcuende, Jose A.;
- Giampietro, Philip;
- Miller, Nancy H.;
- Wise, Carol;
- Gray, Ryan S.;
- Solnica-Krezel, Lila;
- Knutson, Mitchell
Publication type:
Article
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 6, p. 1110, doi. 10.1093/hmg/ddp008
By:
- Asai-Coakwell, Mika;
- French, Curtis R.;
- Ye, Ming;
- Garcha, Kamal;
- Bigot, Karin;
- Perera, Anoja G.;
- Staehling-Hampton, Karen;
- Mema, Silvina C.;
- Chanda, Bhaskar;
- Mushegian, Arcady;
- Bamforth, Steven;
- Doschak, Michael R.;
- Li, Guang;
- Dobbs, Matthew B.;
- Giampietro, Philip F.;
- Brooks, Brian P.;
- Vijayalakshmi, Perumalsamy;
- Sauvé, Yves;
- Abitbol, Marc;
- Sundaresan, Periasamy
Publication type:
Article
Overview of Gene Special Issue "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis".
Published in:
Genes, 2022, v. 13, n. 7, p. 1194, doi. 10.3390/genes13071194
By:
- Giampietro, Philip F.;
- Hadley-Miller, Nancy;
- Raggio, Cathy L.
Publication type:
Article
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
Published in:
Genes, 2021, v. 12, n. 8, p. 1220, doi. 10.3390/genes12081220
By:
- Dahan-Oliel, Noémi;
- Dieterich, Klaus;
- Rauch, Frank;
- Bardai, Ghalib;
- Blondell, Taylor N.;
- Gustafson, Anxhela Gjyshi;
- Hamdy, Reggie;
- Latypova, Xenia;
- Shazand, Kamran;
- Giampietro, Philip F.;
- van Bosse, Harold
Publication type:
Article
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.
Published in:
Genes, 2021, v. 12, n. 7, p. 1052, doi. 10.3390/genes12071052
By:
- Latypova, Xenia;
- Creadore, Stefan Giovanni;
- Dahan-Oliel, Noémi;
- Gustafson, Anxhela Gjyshi;
- Wei-Hung Hwang, Steven;
- Bedard, Tanya;
- Shazand, Kamran;
- van Bosse, Harold J. P.;
- Giampietro, Philip F.;
- Dieterich, Klaus
Publication type:
Article
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
Published in:
2003
By:
- Arleen D. Auerbach;
- Jason Greenbaum;
- Kanan Pujara;
- Sat Dev Batish;
- Marco A. Bitencourt;
- Indira Kokemohr;
- Hildegard Schneider;
- Stephan Lobitz;
- Ricardo Pasquini;
- Philip F. Giampietro;
- Helmut Hanenberg;
- Orna Levran
Publication type:
Erratum
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
Published in:
Human Mutation, 2003, v. 21, n. 2, p. 158, doi. 10.1002/humu.10166
By:
- Auerbach, Arleen D.;
- Greenbaum, Jason;
- Pujara, Kanan;
- Batish, Sat Dev;
- Bitencourt, Marco A.;
- Kokemohr, Indira;
- Schneider, Hildegard;
- Lobitzc, Stephan;
- Pasquini, Ricardo;
- Giampietro, Philip F.;
- Hanenberg, Helmut;
- Levran, Orna
Publication type:
Article
A novel locus for adolescent idiopathic scoliosis on chromosome 12p.
Published in:
Journal of Orthopaedic Research, 2009, v. 27, n. 10, p. 1366, doi. 10.1002/jor.20885
By:
- Raggio, Cathleen L.;
- Giampietro, Philip F.;
- Dobrin, Seth;
- Zhao, Chengfeng;
- Dorshorst, Donna;
- Ghebranious, Nader;
- Weber, James L.;
- Blank, Robert D.
Publication type:
Article

Found: 37