Carlos A Bacino : rechercher sur Z-Library

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1

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

Paolo Moretti, Sarika U. Peters, Daniela del Gaudio, Trilochan Sahoo, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin Roa, Carlos A. Bacino,

Journal:

Journal of Autism and Developmental Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 178 KB

english, 2008

2

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

Lina Shao, Chad A. Shaw, Xin-Yan Lu, Trilochan Sahoo, Carlos A. Bacino, Seema R. Lalani, Pawel Stankiewicz, Svetlana A. Yatsenko, Yinfeng Li, Sarah Neill, Amber N. Pursley, A. Craig Chinault, Ankita P

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 155 KB

english, 2008

3

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome

Lynne M. Bird, Wen-Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, K.

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 352 KB

english, 2011

4

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Vissing, John, Akman, H. Orhan, Aasly, Jan, Kahler, Stephen G., Bacino, Carlos A., DiMauro, Salvatore, Haller, Ronald G.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 316 KB

english, 2018

5

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly

Pillai, Nishitha R., Marafi, Dana, Monteiro, Sonia A., Parnes, Mered, Chandy, Binoy Mathew, Patel, Ankita, Bacino, Carlos A., Breman, Amy M., Burrage, Lindsay C.

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 817 KB

english, 2018

6

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuk, Elena, Hicks, John, Polishchuk, Roman, Bacino, Carlos A., Brunetti‐Pierri, Nicola

Journal:

Molecular Genetics & Genomic Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2019

7

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren,

Journal:

The American Journal of Human Genetics

Année:

2021

Fichier:

PDF, 4.13 MB

2021

8

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Robinson and Dr. Kalousek

Bacino, Carlos A., Graham, John M.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 97 KB

english, 1996

9

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Reply to Dr. Hirschhorn

Bacino, Carlos A., Graham, John M.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 73 KB

english, 1996

10

The Pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

Huq, A.H.M. Mahbubul, Braverman, Richard M., Greenberg, Frank, Bacino, Carlos A., Rimoin, David L., Lachman, Ralph S., Levin, Michael L.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 423 KB

english, 1997

11

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

Stockton, David W., Ross, Helen L., Bacino, Carlos A., Altman, Carolyn A., Shaffer, Lisa G., Lupski, James R.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 376 KB

english, 1997

12

Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart

Bacino, Carlos A., Lee, Brendan, Spikes, Aimee S., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 799 KB

english, 1999

13

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr, Fadi, Bejjani, Bassem, Kruyt, Frank A.E., Kurg, Reet, Bacino, Carlos, Shapira, Stuart K., Youssoufian, Hagop

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 133 KB

english, 1999

14

Caution: Telomere crossing

Shaffer, Lisa G., Kashork, Catherine D., Bacino, Carlos A., Benke, Paul J.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.46 MB

english, 1999

15

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Atkins, Kay E., Gregg, Anthony, Spikes, Aimee S., Bacino, Carlos A., Bejjani, Bassem A., Kirkland, John, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2000

16

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

Bacino, Carlos A., Kashork, Catherine D., Davino, Nelson A., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2000

17

Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

Carlos A. Bacino, David W. Stockton, Roberta A. Sierra, Heidi A. Heilstedt, Raymond Lewandowski, Ignatia B. Van den Veyver

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 624 KB

english, 2000

18

Familial complex chromosomal rearrangement resulting in a recombinant chromosome

Sue Ann Berend, Olaf A.F. Bodamer, Stuart K. Shapira, Lisa G. Shaffer, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 4.38 MB

english, 2002

19

Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

Carlos A. Bacino, Rhona Schreck, Nathan Fischel-Ghodsian, Samuel Pepkowitz, Toni R. Prezant, Dr. John M. Graham Jr.

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 828 KB

english, 1995

20

X-Linked Mental Retardation, by Roger E. Stevenson, Charles E. Schwartz, and Richard J. Schroer, editors

Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 31 KB

english, 2001

21

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

Seema R. Lalani, David W. Stockton, Carlos Bacino, Laura M. Molinari, Nancy L. Glass, Susan D. Fernbach, Jeffrey A. Towbin, William J. Craigen, John M. Graham Jr, Margaret A. Hefner, Angela E. Lin, Ki

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 170 KB

english, 2003

22

Re: Clinical report by Ahmad et al. 14q(22) deletion in a familial case of anophthalmia with polydactyly

Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 30 KB

english, 2004

23

Cognitive and adaptive behavior profiles of children with Angelman syndrome

Sarika U. Peters, Jan Goddard-Finegold, Arthur L. Beaudet, Niru Madduri, Marie Turcich, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 57 KB

english, 2004

24

Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S

Carlos A. Bacino, Farideh Z. Bischoff, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 33 KB

english, 2004

25

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T. Noblin, Carlos A. Bacino, Michael J. Gambello

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 203 KB

english, 2005

26

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

Sau W. Cheung, Chad A. Shaw, Daryl A. Scott, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Amber Pursley, Jiangzhen Li, Robert Erickson, Andrea L. Gropman, David T. Miller, Margretta R. Seashore, A

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 177 KB

english, 2007

27

Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization

Marwan Shinawi, Lina Shao, Linda Jo Bone Jeng, Chad A. Shaw, Ankita Patel, Carlos Bacino, Vernon R. Sutton, John Belmont, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 334 KB

english, 2008

28

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

Nicola Brunetti-Pierri, Daniela del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott, Stefan Mundlos, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 365 KB

english, 2008

29

Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 256 KB

english, 2009

30

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott, Sung-Hae Lee Kang

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 334 KB

english, 2009

31

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome

Svetlana A. Yatsenko, Maria del Valle Torrado, Priscilla H. Fernandes, Joanna Wiszniewska, Marta Gallego, Jorge Herrera, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 279 KB

english, 2009

32

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

Jonathan S. Berg, Lorraine Potocki, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 158 KB

english, 2010

33

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

Sung-Hae L. Kang, Chad Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Pawel Stankiewicz, Ankita Patel, James R. Lupski, Sau

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 730 KB

english, 2010

34

Introductory comments on special section—Genomic microduplications: When adding may equal subtracting

Carlos A. Bacino, Sau-Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 60 KB

english, 2010

35

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

Nicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, Suzanne M. Leal, Pasquale Piccolo, Ignatia B. Van Den Veyver, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 233 KB

english, 2010

36

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association

Cammon B. Arrington, Ankita Patel, Carlos A. Bacino, Neil E. Bowles

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 277 KB

english, 2010

37

Angelman syndrome: Mutations influence features in early childhood

Wen-Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz,

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 133 KB

english, 2011

38

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

Amy M. Breman, Frank J. Probst, Maria A. Blazo, Christian P. Schaaf, Erin K. Roney, William J. Craigen, Carlos A. Bacino, Sau Wai Cheung

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2011

39

A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)

Luis A. Umaña, Pilar Magoulas, Weimin Bi, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 864 KB

english, 2011

40

WDR62 missense mutation in a consanguineous family with primary microcephaly

Carlos A. Bacino, Luis A. Arriola, Joanna Wiszniewska, Penelope E. Bonnen

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 184 KB

english, 2012

41

Mutations in two regions of FLNB result in atelosteogenesis I and III

Claire Farrington-Rock, Marc H. Firestein, Louise S. Bicknell, Andrea Superti-Furga, Carlos A. Bacino, Valerie Cormier-Daire, Martine Le Merrer, Clarisse Baumann, Joelle Roume, Patrick Rump, Joke B.G.

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 271 KB

english, 2006

42

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ank

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 511 KB

english, 2010

43

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata A. Nowakowska, Daniela del Gaudio, Zhil

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 895 KB

english, 2010

44

A case of familial isolated hemihyperplasia

Heidi A Heilstedt, Carlos A Bacino

Journal:

BMC Medical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 719 KB

english, 2004

45

SNP genotyping to screen for a common deletion in CHARGE Syndrome

Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen, John W Belmont

Journal:

BMC Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2005

46

Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra-familial variability

Carlos A. Bacino, Lawrence D. Platt, Ann Garber, Dru Carlson, Samuel Pepkowitz, Ralph S. Lachman, Reuven Sharony, David L. Rimoin, John M. Graham Jr

Journal:

Prenatal Diagnosis

Année:

1993

Langue:

english

Fichier:

PDF, 909 KB

english, 1993

47

EGR2mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Bacino, Donna Daentl, James R. Lupski

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 90 KB

english, 2001

48

Spontaneous hyphaema in a patient on warfarin treatment

Alessandro Bagnis, Silvio Lai, Michele Iester, Luca Bacino, Carlo Enrico Traverso

Journal:

British Journal of Clinical Pharmacology

Année:

2008

Langue:

english

Fichier:

PDF, 244 KB

english, 2008

49

Alterations in white matter pathways in Angelman syndrome

SARIKA U PETERS, WALTER E KAUFMANN, CARLOS A BACINO, ADAM W ANDERSON, PAVANI ADAPA, ZILI CHU, RAGINI YALLAMPALLI, ELFRIDES TRAIPE, JILL V HUNTER, ELISABETH A WILDE

Journal:

Developmental Medicine & Child Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 307 KB

english, 2011

50

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorrain

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 428 KB

english, 2009