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1

The development of a psychoeducational intervention for women living with an increased risk of breast cancer

Sally Appleton, Sixto Garcia-Minaur, Mary Porteous, Joyce Campbell, Elaine Anderson, Maggie Watson, Ann Cull

Journal:

Patient Education and Counseling

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

2

A randomised controlled trial of a psychoeducational intervention for women at increased risk of breast cancer

Appleton, S, Watson, M, Rush, R, Garcia-Minaur, S, Porteous, M, Campbell, J, Anderson, E, Cull, A

Journal:

British Journal of Cancer

Year:

2004

Language:

english

File:

PDF, 116 KB

english, 2004

3

Simpson-Golabi-Behmel syndrome types I and II

Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

File:

PDF, 501 KB

2014

4

Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

Boyd, P. A., Wellesley, D. G., de Walle, H. E. K., Tenconi, R., Garcia-Minaur, S., Zandwijken, G. R. J., Stoll, C., Clementi, M.

Journal:

Journal of Medical Screening

Year:

2000

Language:

english

File:

PDF, 225 KB

english, 2000

5

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

Fernández, Luis, Tenorio, Jair, Polo-Vaquero, Coral, Vallespín, Elena, Palomares-Bralo, María, García-Miñaúr, Sixto, Santos-Simarro, Fernando, Arias, Pedro, Carnicer, Hernán, Giannivelli, Silvina, Med

Journal:

Revista Española de Cardiología (English Edition)

Year:

2017

File:

PDF, 864 KB

2017

6

LETTER TO THE EDITOR. Multiple-marker Screen Positive Results in Noonan Syndrome

GABRIEL ARANGUREN, SIXTO GARCÍA-MIÑAUR, LILIANE LORIDAN, ADOLFO URIBARREN, LUCI MARTÍN VARGAS, JUAN RODRÍGUEZ-SORIANO

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 165 KB

english, 1996

7

Further case of aminopterin syndrome sine aminopterin in a Spanish child

Sixto Garcia-Minaur, Maria Pilar Botella

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 280 KB

english, 2000

8

Reply to the letter to the editor by Martínez-Frías et al.—“It is necessary to perform high-resolution band chromosomes in any child with malformations, before making a diagnosis or establishing a possible relationship with any risk factor”

Sixto Garcia-Minaur

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 36 KB

english, 2001

9

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3

Sixto Garcia-Miñaur, Jacqueline Ramsay, Elizabeth Grace, Robert A. Minns, Lynn M. Myles, David R. FitzPatrick

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 327 KB

english, 2005

10

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan, Lesley Adès, Salim Aftimos, Odile Boute, Torunn Fiskerstrand, Sixto Garcia-Miñaur, Arthur Grix, Andrew Green, Vazken Der Kaloustian, Ray Lewkon

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

11

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan, Lesley Adès, Salim Aftimos, Odile Boute, Torunn Fiskerstrand, Sixto Garcia-Miñaur, Arthur Grix, Andrew Green, Vazken Der Kaloustian, Ray Lewkon

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

12

Unusual four-generation chromosome-22 rearrangement: When “normality” masks abnormality

Julián Nevado, M. Luisa de Torres, Luis Fernández, M. Ángeles Mori, Amelia Villa, María Palomares, Fe García-Santiago, Elena Mansilla, Sixto García-Miñaur, Alicia Delicado, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

13

CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

Valeria Romanelli, Alberta Belinchón, Sara Benito-Sanz, Victor Martínez-Glez, Ricardo Gracia-Bouthelier, Karen E. Heath, Angel Campos-Barros, Sixto García-Miñaur, Luís Fernandez, Heloisa Meneses, Juan

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

14

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr

Eva Barroso, Virginia Pérez-Carrizosa, Ignacio García-Recuero, Marc J. Glucksman, Andrew O. Wilkie, Sixto García-Minaur, Karen E. Heath

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 637 KB

english, 2011

15

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

B. D'haene, J. Nevado, M. Pugeat, G. Pierquin, R.B. Lowry, W. Reardon, A. Delicado, S. García-Miñaur, M. Palomares, W. Courtens, M. Stefanova, S. Wallace, W. Watkins, A. N. Shelling, D. Wieczorek, R.

Journal:

Year:

2010

Language:

english

File:

PDF, 2.03 MB

english, 2010

16

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Gueret

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 2.49 MB

english, 2009

17

Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals

Theresa M. Marteau, Irma Nippert, (writing committee) Sue Hall, Caroline Limbert, Margaret Reid, Martin Bobrow, Alan Cameron, Martina Cornel, Mariet van Diem, Bernd Eiben, Sixto García-Miñaur, Janine

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 62 KB

english, 2002

18

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Jenkins, Zandra A, van Kogelenberg, Margriet, Morgan, Tim, Jeffs, Aaron, Fukuzawa, Ryuji, Pearl, Esther, Thaller, Christina, Hing, Anne V, Porteous, Mary E, Garcia-Miñaur, Sixto

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 502 KB

english, 2008

19

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

Garcia-Miñaur, Sixto, Mavrogiannis, Lampros A, Rannan-Eliya, Sahan V, Hendry, Michael A, Liston, William A, Porteous, Mary E M, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

20

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. R

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 742 KB

english, 2011

21

CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients

V. Romanelli, A. Belinchón, A. Campos-Barros, K.E. Heath, S. García-Miñaur, V. Martínez-Glez, R. Palomo, G. Mercado, R. Gracia, P. Lapunzina

Journal:

Year:

2009

Language:

english

File:

PDF, 141 KB

english, 2009

22

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

Scott, R H, Douglas, J, Baskcomb, L, Nygren, A O, Birch, J M, Cole, T R, Cormier-Daire, V, Eastwood, D M, Garcia-Minaur, S, Lupunzina, P

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 278 KB

english, 2007

23

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

Luis Fernández, Julián Nevado, María L. De Torres, Elena Mansilla, Elena Vallespín, Sixto García-Miñaúr, Rebeca Palomo, Lucía Deirós, Marta Cabrera, Elia Dina Galo, Pablo Lapunzina, Alicia Delicado

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

24

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10

Thomas Eggermann, Matthias Begemann, Magdalena Gogiel, María Palomares, Elena Vallespín, Luis Fernández, Rosario Cazorla, Sabrina Spengler, Sixto García-Miñaúr

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 200 KB

english, 2012

25

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía

Begoña Ezquieta, José L. Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfr

Journal:

Revista Española de Cardiología

Year:

2012

File:

PDF, 290 KB

2012

26

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

Begoña Ezquieta, José L. Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfr

Journal:

Revista Española de Cardiología (English Edition)

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

27

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

Rodríguez-Revenga, Laia, Vallespín, Elena, Madrigal, Irene, Palomares, María, Mur, Antonio, García-Miñaur, Sixto, Santos, Fernando, Mori, M. Ángeles, Lapunzina, Pablo, Mila, Montserrat, Nevado, Julián

Journal:

Year:

2013

Language:

english

File:

PDF, 239 KB

english, 2013

28

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

Vallespín, Elena, Palomares Bralo, María, Mori, M. Ángeles, Martín, Rubén, García-Miñaúr, Sixto, Fernández, Luis, de Torres, M. Luisa, García-Santiago, Fe, Mansilla, Elena, Santos, Fernando, M-Montaño

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 523 KB

english, 2013

29

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.64 MB

english, 2013

30

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

Ballesta-Martínez, Maria Juliana, López-González, Vanesa, Dulcet, Lluis Armengol, Rodríguez-Santiago, Benjamín, Garcia-Miñaúr, Sixto, Guillen-Navarro, Encarna

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.03 MB

english, 2013

31

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers,

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 386 KB

english, 2008

32

Toward the Effective Surveillance of Hypospadias

Helen Dolk, Martine Vrijheid, John E. S. Scott, Marie-Claude Addor, Bev Botting, Catherine de Vigan, Hermien de Walle, Ester Garne, Maria Loane, Anna Pierini, Sixto Garcia-Minaur, Nigel Physick, Roman

Journal:

Environmental Health Perspectives

Year:

2004

Language:

english

File:

PDF, 1.32 MB

english, 2004

33

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

Amiñoso, C., García-Miñaúr, S., Martínez, L., Tenorio, J.A., Tovar, J.A., Lapunzina, P., Solera, J.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 539 KB

english, 2014

34

Chondrodysplasia punctata associated with maternal Sjögren syndrome

Huarte, Natalia Marin, Santos-Simarro, Fernando, Abascal, Ignacio Pastor, García-Miñaur, Sixto, Omeñaca, Felix

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 316 KB

english, 2014

35

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Carcavilla, Atilano, García-Miñaúr, Sixto, Pérez-Aytés, Antonio, Vendrell, Teresa, Pinto, Isabel, Guillén-Navarro, Encarna, González-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begoña

Journal:

Medicina Clínica

Year:

2015

File:

PDF, 688 KB

2015

36

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Fung, Wai Lun Alan, Butcher, Nancy J., Costain, Gregory, Andrade, Danielle M., Boot, Erik, Chow, Eva W.C., Chung, Brian, Cytrynbaum, Cheryl, Faghfoury, Hanna, Fishman, Leona, García-Miñaúr, Sixto, Geo

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 608 KB

english, 2015

37

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 303 KB

english, 2014

38

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Romanelli, V., Nevado, J., Fraga, M., Trujillo, A. M., Mori, M. A., Fernandez, L., de Nanclares, G. P., Martinez-Glez, V., Pita, G., Meneses, H., Gracia, R., Garcia-Minaur, S., de Miguel, P. G., Lecum

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 722 KB

english, 2011

39

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

García-Santiago, Fe Amalia, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Mansilla, Elena, Meneses, Antonio González, Rosell, Jordi, Granero, Ángeles Pérez, Vallespín, Elena, Fernánde

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.49 MB

english, 2015

40

A novel atypical 22q11.2 distal deletion in father and son

Garcia-Minaur, S

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 332 KB

english, 2002

41

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

Carcavilla, Atilano, García-Miñaúr, Sixto, Pérez-Aytés, Antonio, Vendrell, Teresa, Pinto, Isabel, Guillén-Navarro, Encarna, González-Meneses, Antonio, Aoki, Yoko, Grinberg, Daniel, Ezquieta, Begoña

Journal:

Medicina Clínica (English Edition)

Year:

2015

File:

PDF, 728 KB

2015

42

Síndromes de sobrecrecimiento y desarrollo de tumores embrionarios: revisión de nuestra casuística en los últimos 5 años

Sánchez-Soler, M.J., Tenorio, J., García-Miñaur, S., Santos-Simarro, F., Lapunzina, P.

Journal:

Anales de Pediatría

Year:

2016

File:

PDF, 215 KB

2016

43

Three new European cases of urofacial (Ochoa) syndrome

Garcia-Minaur, Sixto, Oliver, Francisco, Yanez, Jose Maria, Soriano, Juan Rodriguez, Quinn, Feargal, Reardon, William

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 801 KB

english, 2001

44

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature

Vasudevan, Pradeep C., Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L., Quarrell, Oliver W. J.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 323 KB

english, 2005

45

Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years

Sánchez-Soler, María José, Tenorio, Jair, García-Miñaur, Sixto S., Santos-Simarro, Fernando F., Lapunzina, Pablo

Journal:

Anales de Pediatría (English Edition)

Year:

2016

Language:

english

File:

PDF, 215 KB

english, 2016

46

Myeloproliferative Disorder in Noonan Syndrome

Bastida, Pilar, García-Miñaúr, Sixto, Ezquieta, Begoña, Dapena, José Luis, Sanchez de Toledo, José

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2011

Language:

english

File:

PDF, 92 KB

english, 2011

47

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby

Noguera-Morel, Lucero, Feito-Rodríguez, Marta, Maldonado-Cid, Paola, García-Miñáur, Sixto, Kamsteeg, Erik-Jan, González-Sarmiento, Rogelio, De Lucas-Laguna, Raúl, Hernández-Martín, Angela, Torrelo, An

Journal:

Pediatric Dermatology

Year:

2016

Language:

english

File:

PDF, 332 KB

english, 2016

48

A distinct syndrome of familial cleft lip and palate with prominent eyes and characteristic facies in two unrelated families

KUMAR, D., GARCIA-MINAUR, S., QUARRELL, O. W.J., LANDA, GONZALO, GARAIZAR, CARMEN

Journal:

Clinical Dysmorphology

Year:

1996

File:

PDF, 1.15 MB

1996

49

Setleis ('bitemporal forceps marks') syndrome

GARCIA-MINAUR, S., LINARES, A.

Journal:

Clinical Dysmorphology

Year:

1995

File:

PDF, 425 KB

1995

50

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Santos-Simarro, F., Vallespin, E., del Pozo, A., Ibañez, K., Silla, J.C., Fernandez, L., Nevado, J., González-Pecellín, H., Montaño, V.E.F., Martin, R., Alba Valdivia, L.I., García-Miñaúr, S., Lapunzi

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 951 KB

english, 2017

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