Nara, Sobreira: search on Z-Library

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1

Finlay–Marks (SEN) syndrome: A sporadic case and the delineation of the syndrome

Nara Lygia de Macena Sobreira, Décio Brunoni, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 111 KB

english, 2006

2

Complex toe syndactyly with characteristic facial phenotype: A new syndrome?

Nara Lygia Macena Sobreira, Mirlene Cecilia S.P. Cernach, Decio Brunoni, Ana Beatriz Alvarez Perez

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

3

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, A

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 626 KB

english, 2013

4

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 303 KB

english, 2016

5

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., St

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.52 MB

english, 2015

6

Writing as a challenge in the observer's journey through the Bick method of infant observation

Caron, Nara, Sobreira Lopes, Rita, Steibel, Denise, Schneider Donelli, Tagma

Journal:

Infant Observation

Year:

2012

Language:

english

File:

PDF, 77 KB

english, 2012

7

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

de Macena Sobreira, Nara Lygia, Alves, Maria Tereza S., Alvarez Perez, Ana Beatriz, Brunoni, Decio, Cernach, Mirlene C.S.P.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

8

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa

Chen, Sean, Mattei, Peter, You, Jing, Sobreira, Nara L., Hinds, Ginette A.

Journal:

JAMA Dermatology

Year:

2015

Language:

english

File:

PDF, 158 KB

english, 2015

9

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

Ben-Salem, Salma, Nara, Sobreira, Al-Shamsi, Aisha M., Valle, David, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

The Journal of Dermatology

Year:

2015

Language:

english

File:

PDF, 99 KB

english, 2015

10

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant

Carvalho, Daniel R., Medeiros, João Eugenio G., Ribeiro, Daniela Sebestyan M., Martins, Bernardo J.A.F., Sobreira, Nara L.M.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 5.66 MB

english, 2017

11

A novel PRRT2 pathogenic variant in a family with Paroxysmal Kinesigenic Dyskinesia and Benign Familial Infantile Seizures

Lu, Jacqueline G, Bishop, Juliet, Cheyette, Sarah, Zhulin, Igor B, Guo, Su, Sobreira, Nara, Brenner, Steven E

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 7.79 MB

english, 2017

12

GomezâLÃ³pezâHernÃ¡ndez syndrome: A case report with clinical and molecular evaluation and literature review

Perrone, Eduardo, D'Almeida, VÃ¢nia, Macena Sobreira, Nara Lygia, Mello, Claudia Berlim, Oliveira, Allan Chiaratti, Burlin, StÃªnio, Soares, Maria de FÃ¡tima de Faria, Cernach, Mirlene CecÃlia Soares

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.56 MB

2020

13

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Malhotra, Alka, Ziegler, Alban, Shu, Li, Perrier, Renee, Amlie-Wolf, Louise, Wohler, Elizabeth, Lygia de Macena Sobreira, Nara, Colin, Estelle, Vanderver, Adeline, Sherbini, Omar, Stouffs, Katrien, Sc

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 708 KB

2020

14

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

Au, P. Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Michei

Journal:

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

15

226. Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort

Lori, Adriana, Sobreira, Nara, Ward Ward, Isum D, Almli, Lynn M., Powers, Abigail, Michopolous, Vasiliki, Kerley, Kimberly, Wingo, Aliza, Bradley, Bekh, Boehm, Corinne, Jovanovic, Tanja, Ressler, Kerr

Journal:

Biological Psychiatry

Year:

2017

Language:

english

File:

PDF, 43 KB

english, 2017

16

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

El Abiad, Jad M., Robbins, Sarah M., Cohen, Bernard, Levin, Adam S., Valle, David L., Morris, Carol D., Macena Sobreira, Nara L.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.31 MB

2020

17

Exome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC) from a consanguineous population

Islam, Farrah, Htun, Stephanie, Lai, Li-Wen, Krall, Max, Poranki, Menitha, Martin, Pierre-Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 956 KB

2020

18

Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Jurgens, Julie, Sobreira, Nara, Modaff, Peggy, Reiser, Catherine A., Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Kim, Ok Hwa, Cho, Tae-Joon, Pauli, Richard M.

Journal:

Year:

2015

Language:

english

File:

PDF, 352 KB

english, 2015

19

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Carvalho, Daniel R., SpeckâMartins, Carlos E., Brum, Jaime M., Ferreira, Carlos R., Sobreira, Nara L. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.08 MB

2020

20

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

Journal:

Year:

2015

Language:

english

File:

PDF, 294 KB

english, 2015

21

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Migliavacca, Michele P., Sobreira, Nara L. M., Antonialli, Graziela P.M., Oliveira, Mariana M., Melaragno, Maria Isabel S.A., Casteels, Ingele, de Ravel, Thomy, Brunoni, Decio, Valle, David, Perez, An

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

22

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khai

Journal:

Year:

2016

Language:

english

File:

PDF, 3.93 MB

english, 2016

23

Trigeminal ganglia hypoplasia as imaging clue for the diagnosis of GÃ³mez-LÃ³pez-HernÃ¡ndez syndrome

Perrone, Eduardo, Burlin, StÃªnio, DâAlmeida, VÃ¢nia, Perez, Ana Beatriz Alvarez, Sobreira, Nara Lygia de Macena, Procaci, Victor Rebelo, Jacobina, Marcela Amaral Avelino, Barsottini, Orlando G., Pe

Journal:

Year:

2020

File:

PDF, 2.10 MB

2020

24

Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion

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 Berl

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.19 MB

english, 2014

25

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

Moreno, Carolina Araujo, Sobreira, Nara, Pugh, Elizabeth, Zhang, Peng, Steel, Gary, Torres, Fábio Rossi, Cavalcanti, Denise Pontes

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 875 KB

english, 2018

26

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism

Zahra, Qandeel, Ãakmak, ÃaÄla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Guillen Sacoto, Maria J., Malik, Sajid, Tolun, AslÄ±han

Journal:

Journal of Human Genetics

Year:

2020

File:

PDF, 877 KB

2020

27

The baby and his majesties: some considerations on human helplessness

Caron, Nara Amália, da Fonseca, Maria Mercedes Cardoso, Lopes, Rita Sobreira

Journal:

Infant Observation

Year:

2008

Language:

english

File:

PDF, 96 KB

english, 2008

28

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V. Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

Journal:

Year:

2013

Language:

english

File:

PDF, 475 KB

english, 2013

29

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

Buske, Orion J., Schiettecatte, François, Hutton, Benjamin, Dumitriu, Sergiu, Misyura, Andriy, Huang, Lijia, Hartley, Taila, Girdea, Marta, Sobreira, Nara, Mungall, Chris, Brudno, Michael

Journal:

Year:

2015

Language:

english

File:

PDF, 481 KB

english, 2015

30

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 651 KB

english, 2015

31

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Ben-Salem, Salma, Robbins, Sarah M, LM Sobreira, Nara, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Al Hamed, Sania, Valle, David, Ali, Bass

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 2.66 MB

english, 2017

32

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes

Giorgio, Elisa, Sirchia, Fabio, Bosco, Martino, Sobreira, Nara Lygia M., Grosso, Enrico, Brussino, Alessandro, Brusco, Alfredo

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

33

DIAMUND: Direct Comparison of Genomes to Detect Mutations

Salzberg, Steven L., Pertea, Mihaela, Fahrner, Jill A., Sobreira, Nara

Journal:

Year:

2014

Language:

english

File:

PDF, 279 KB

english, 2014

34

A place where verbalisation has no meaning

Caron, Nara Amália, Sobreira Lopes, Rita, Schneider Donelli, Tagma

Journal:

Infant Observation

Year:

2013

Language:

english

File:

PDF, 93 KB

english, 2013

35

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.49 MB

english, 2015

36

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 587 KB

english, 2016

37

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

Sisk, Robert A., Hufnagel, Robert B., Laham, Ailee, Wohler, Elizabeth S., Sobreira, Nara, Ahmed, Zubair M.

Journal:

Journal of Ophthalmology

Year:

2018

Language:

english

File:

PDF, 9.08 MB

english, 2018

38

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 7.00 MB

english, 2017

39

878: Clinical vs novel single nucleotide variants by WES in fetuses with pleural effusions

Jelin, Angie C., Sobreira, Nara, Wohler, Elizabeth, Solomon, Benjamin, Sparks, Teresa, Sagaser, Katelynn G., Forster, Katie Rock, Witmer, Dane, Hamosh, Ada, Valle, David, Blakemore, Karin J.

Journal:

American Journal of Obstetrics and Gynecology

Year:

2019

File:

PDF, 599 KB

2019

40

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 3.15 MB

english, 2017

41

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, Nara, Brucato, Martha, Zhang, Li, Ladd-Acosta, Christine, Ongaco, Chrissie, Romm, Jane, Doheny, Kimberly F, Mingroni-Netto, Regina C, Bertola, Debora, Kim, Chong A, Perez, Ana BA, Melaragno,

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 933 KB

english, 2017

42

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan

Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf

Journal:

Scientific Reports

Year:

2020

File:

PDF, 1.36 MB

2020

43

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder

Nara Sobreira, Michael F. Walsh, Denise Batista, Tao Wang

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 150 KB

english, 2009

44

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor ( LBR ) gene mutations: Further definition of the phenotypic heterogeneity of LBR -bone dysplasias

Sobreira, Nara, Modaff, Peggy, Steel, Gary, You, Jing, Nanda, Sonia, Hoover-Fong, Julie, Valle, David, Pauli, Richard M.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 458 KB

english, 2015

45

Lessons learned from the search for genes responsible for rare Mendelian disorders

Sobreira, Nara L., Valle, David

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 76 KB

english, 2016

46

The challenge of becoming supervisor/seminar leader in infant observation

Caron, Nara Amália, Lopes, Rita Sobreira, Steigleder, Margared

Journal:

Infant Observation

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

47

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

Journal:

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

48

An observer's intense and challenging journey observing the short life of an extremely premature baby in Neonatal Intensive Care

Steibel, Denise, Caron, Nara Amália, Lopes, Rita Sobreira

Journal:

Infant Observation

Year:

2014

Language:

english

File:

PDF, 96 KB

english, 2014

49

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

te Riele, Anneline S.J.M., Agullo-Pascual, Esperanza, James, Cynthia A., Leo-Macias, Alejandra, Cerrone, Marina, Zhang, Mingliang, Lin, Xianming, Lin, Bin, Sobreira, Nara L., Amat-Alarcon, Nuria, Mars

Journal:

Cardiovascular Research

Year:

2017

Language:

english

File:

PDF, 943 KB

english, 2017

50

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

Mealy, Maureen A., Nam, Tai-Seung, Pardo, Santiago J., Pardo, Carlos A., Sobreira, Nara L., Avramopoulos, Dimitrios, Valle, David, Burns, Kathleen H., Levy, Michael

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 521 KB

english, 2018

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