ESPECHE, LUCÍA D.; SEWELL, KARL ELLIOTH; CASTRO, IGNACIO H.; CAPECE, LUCIANA; PIGNATARO, MARÍA FLORENCIA; DAIN, LILIANA; SANTOS, JAVIER

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS; Año: 2022 vol. 715

DELEA, MARISOL; MASSARA, LUCIA S.; ESPECHE, LUCIA D.; BIDONDO, MARÍA PAZ; BARBERO, PABLO; OLIVERI, JAEN; BRUN, PALOMA; FABRO, MÓNICA; GALAIN, MICAELA; FERNÁNDEZ, CECILIA S.; TABOAS, MELISA; BRUQUE, CARLOS D.; KOLOMENSKI, JORGE E.; IZQUIERDO, AGUSTÍN; BERENSTEIN, ARIEL; COSENTINO, VIVIANA; MARTINOLI, CELESTE; VILAS, MARIANA; RITTLER, MÓNICA; MENDEZ, RODRIGO; FURFORO, LILIAN; LIASCOVICH, ROSA; GROISMAN, BORIS; ROZENTAL, SANDRA; DAIN, LILIANA

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Genes; Año: 2022 vol. 13

FRAGOSO, MARIA CANDIDA B.V.; BACHEGA, TÂNIA A. S. S.; DAIN, LILIANA

Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment

Frontiers in Endocrinology; Año: 2022 vol. 13

FERDER, IANINA C.; ESPECHE, LUCÍA D.; BRUQUE, CARLOS D.; PARBORELL, FERNANDA; TESONE, MARTA; DAIN, LILIANA

Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat

REPRODUCTION FERTILITY AND DEVELOPMENT; Año: 2022 vol. 34 p. 1034 - 1042

DELEA, M.; MASSARA S; BRUQUE C.D.; ESPECHE LD; TABOAS M.; BARBERO PABLO; BIDONDO MA. PAZ; LIASCOVICH R; GROISMAN B; COSENTINO V; MARTINOLI C; FURFORO L; RITTLER M; KOLOMENSKI, JORGE E.; OLIVERI J; BRUN P; ROZENTAL SANDRA; DAIN L*

ANÁLISIS DE ANOMALÍAS CROMOSÓMICAS, DESBALANCES GENÓMICOS Y VARIANTES DE SECUENCIA COMO CAUSA DE CARDIOPATÍAS CONGÉNITAS

Revista argentina de salud publica; Año: 2021 vol. 13

ESPECHE, LUCÍA DANIELA; SOLARI, ANDREA PAULA; MORI, MARÍA ÁNGELES; ARENAS, RUBÉN MARTÍN; PALOMARES, MARÍA; PÉREZ, MYRIAM; MARTÍNEZ, CINTHIA; LOTERSZTEIN, VANESA; SEGOVIA, MABEL; ARMANDO, ROMINA; DAIN, LILIANA BEATRIZ; NEVADO, JULIÁN; LAPUNZINA, PABLO; ROZENTAL, SANDRA

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

MOLECULAR BIOLOGY REPORTS; Lugar: Berlin; Año: 2020

DAIN LILIANA; ARGENTINIAN ANTICOVID CONSORTIUM

Structural and functional comparison of SARS-CoV-2-spike receptor binding domain produced in Pichia pastoris and mammalian cells

Scientific Reports; Año: 2020 vol. 10

DELEA, MARISOL; MASSARA, LUCÍA; ESPECHE, LUCÍA; BIDONDO, MARÍA; BARBERO, PABLO; OLIVERI, JAEN; BRUN, PALOMA; FABRO, MÓNICA; GALAIN, MICAELA; FERNÁNDEZ, CECILIA; TABOAS, MELISA; BRUQUE, CARLOS; KOLOMENSKI, EMILIO; IZQUIERDO, AGUSTÍN; BERENSTEIN, ARIEL; COSENTINO, VIVIANA; MARTINOLI, MARÍA; VILAS, MARIANA; RITTLER, MÓNICA; MENDEZ, RODRIGO; FURFORO, LILIAN; LIASCOVICH, ROSA; GROISMAN, BORIS; ROZENTAL, SANDRA; DAIN, LILIANA

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Proceedings; Año: 2020 vol. 76

FERNÁNDEZ, CECILIA S.; TABOAS, MELISA; BRUQUE, CARLOS D.; BENAVIDES-MORI, BELÉN; BELLI, SUSANA; STIVEL, MIRTA; ONETO, ADRIANA; PASQUALINI, TITANIA; DELEA, MARISOL; ESPECHE, LUCÍA D.; KOLOMENSKI, JORGE E.; ALBA, LILIANA; BUZZALINO, NOEMÍ; DAIN, LILIANA

Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency

CLINICAL ENDOCRINOLOGY; Año: 2020

KOLOMENSKI, JORGE E.; DELEA, MARISOL; SIMONETTI, LEANDRO; FABBRO, MÓNICA C.; ESPECHE, LUCÍA D.; TABOAS, MELISA; NADRA, ALEJANDRO D.; BRUQUE, CARLOS D.; DAIN, LILIANA

Update of genetic variants in the NKX2‐5 gene

HUMAN MUTATION; Año: 2020

MENDEZ RODRIGO; DELEA MARISOL; DAIN LILIANA; RITTLER M

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

CLINICAL DYSMORPHOLOGY; Lugar: Philadelphia; Año: 2019

COTIGNOLA, JAVIER; ROZENTAL SANDRA; BUZZALINO, N; DAIN L

Genetics and genomic medicine in Argentina

Molecular Genetics and Genomic medicine; Año: 2019

MASSARA, LUCÍA S.; DELEA, MARISOL; ESPECHE, LUCÍA; BRUQUE, CARLOS D.; OLIVERI, JAEN; BRUN, PALOMA; FURFORO, LILIAN; DAIN, LILIANA; ROZENTAL, SANDRA

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

CYTOGENETIC AND GENOME RESEARCH; Año: 2019

PORTNOI, MARIE-FRANCE; DUMARGNE, MARIE-CHARLOTTE; ROJO, SANDRA; WITCHEL, SELMA F; DUNCAN, ANDREW J; EOZENOU, CAROLINE; BIGNON-TOPALOVIC, JOELLE; YATSENKO, SVETLANA A; RAJKOVIC, ALEKSANDAR; REYES-MUGICA, MIGUEL; ALMSTRUP, KRISTIAN; FUSEE, LEILA; SRIVASTAVA, YOGESH; CHANTOT-BASTARAUD, SANDRA; HYON, CAPUCINE; LOUIS-SYLVESTRE, CHRISTINE; VALIDIRE, PIERRE; DE MALLERAY PICHARD, CAROLINE; RAVEL, CELIA; CHRISTIN-MAITRE, SOPHIE; BRAUNER, RAJA; ROSSETTI, RAFFAELLA; PERSANI, LUCA; CHARREAU, EDUARDO H; DAIN, LILIANA; CHIAUZZI, VIOLETA A; MAZEN, INAS; ROUBA, HASSAN; SCHLUTH-BOLARD, CAROLINE; MACGOWAN, STUART; MCLEAN, W H IRWIN; PATIN, ETIENNE; RAJPERT-DE MEYTS, EWA; JAUCH, RALF; ACHERMANN, JOHN C; SIFFROI, JEAN-PIERRE; MCELREAVEY, KEN; BASHAMBOO, ANU

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

HUMAN MOLECULAR GENETICS; Año: 2018 vol. 27 p. 1228 - 1240

SIMONETTI, LEANDRO; BRUQUE, CARLOS D.; FERNÁNDEZ, CECILIA S.; BENAVIDES-MORI, BELÉN; DELEA, MARISOL; KOLOMENSKI, JORGE E.; ESPECHE, LUCÍA D.; BUZZALINO, NOEMÍ D.; NADRA, ALEJANDRO D.; DAIN, LILIANA

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

HUMAN MUTATION; Lugar: New York; Año: 2018 vol. 39 p. 5 - 22

DELEA, M.; ESPECHE LD; BRUQUE C.D.; BIDONDO MA. PAZ; MASSARA S; OLIVERI J; BRUN P; COSENTINO V; MARTINOLI C; TOLABA N; PICON C; PONCE ZALDUA ME; AVILA S; GUTNISKY V; PEREZ M; FURFORO L; BUZALINO N; LIASCOVICH R; GROISMAN B; RITTLER M; ROZENTAL SANDRA; BARBERO PABLO; DAIN L

Genetic imbalances in Argentinean patients with congenital conotruncal heart defects

Genes; Año: 2018 vol. 9

ESPECHE, LUCÍA DANIELA; CHIAUZZI, VIOLETA; FERDER, IANINA; ARRAR, MEHRNOOSH; SOLARI, ANDREA PAULA; BRUQUE, CARLOS DAVID; DELEA, MARISOL; BELLI, SUSANA; FERNÁNDEZ, CECILIA SOLEDAD; BUZZALINO, NOEMÍ DELIA; CHARREAU, EDUARDO HERNÁN; DAIN, LILIANA BEATRIZ

Distribution of FMR1 and FMR2 repeats in Argentinean patients with primary ovarian insufficiency

Genes; Año: 2017 vol. 8

BRUQUE, C.D.; DELEA, M.; FERNÁNDEZ, C.S.; ORZA J.V.; TABOAS, M; BUZZALINO N.; ESPECHE, L.D.; SOLARI, A.; LUCCDRINI, V.; ALBA, L.; NADRA, A.D.; DAIN, L

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Scientific Reports; Año: 2016

FERNANADEZ CS; BRUQUE, C.D.; M. TABOAS,; BUZZALINO N.; ESPECHE LD; PASQUALINI T; CHARREAU E.H.; ALBA LG.; GHIRINGHELLI PD; DAIN LD

Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency

ENDOCRINE; Año: 2015 vol. 50 p. 72 - 78

M. TABOAS,; GÓMEZ ACUÑA L.; SCAIA M F; BRUQUE, C.D.; BUZZALINO N.; STIVEL, M.; CEBALLOS N.; DAIN, L

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

PLOS ONE; Lugar: San Francisco; Año: 2014 p. 1 - 12

FERDER I; PARBORELL F; SUNDBLAD V; CHIAUZZI V; GÓMEZ K; CHARREAU E; TESONE M; DAIN L

Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat.

REPRODUCTION; Año: 2013 vol. 145 p. 335 - 343

TABOAS, M; FERNÁNDEZ C; BELLI S; BUZZALINO N.; ALBA L; DAIN L

Isolated p.H62L mutation in the CYP21A2 gene in a simple virilizing 21-hydroxylase deficient patient

CASE REPORTS IN GENETICS; Año: 2013 p. 1 - 4

PASQUALINI T; ALONSO G; FERNÁNDEZ C; BUZZALINO N.; DAIN L

El tratamiento en varones sintomáticos con hiperplasia suprarrenal no clásica (HSCNC) podría mejorar la talla adulta

ARCHIVOS ARGENTINOS DE PEDIATRIA; Lugar: Buenos Aires; Año: 2013 vol. 11 p. 35 - 38

DAIN L; CASALI B

Hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Año: 2012 vol. 21 p. 22 - 35

MINUTOLO C.; NADRA A; FERNÁNDEZ C; TABOAS, M; BUZALINO N; CASALI B; BELLI S; CHARREAU E; ALBA L; DAIN L

Structural based analysis of Five disease causing-mutation in 21-Hydroxylase deficient patients.

PLOS ONE; Año: 2011 p. 158991 - 158999

V. SUNDBLAD; V. A. CHIAUZZI; L. ANDREONE; S. CAMPO; E. H. CHARREAU; L. DAIN

Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarianfailure (POF) development

CURRENT TRENDS IN ENDOCRINOLOGY; Año: 2010 vol. 4 p. 21 - 27

CHIAUZZI VA; FERDER I; ALBA L,; BELLI S; ESCOBAR ME; CHARREAU EH; DAIN L

ESTUDIOS DE LA REGIÓN 5?UTR DEL GEN FMR-1 EN PACIENTES CON FALLA OVARICA PREMATURA

REVISTA ARGENTINA DE ENDOCRINOLOGIA Y METABOLISMO; Año: 2010 vol. 47 p. 3 - 10

T. PASQUALINI; G. ALONSO; R. TOMASINI; A. GALICH; N. BUZZALINO; C.MINUTOLO; C. FERNÁNDEZ; L. ALBA; L. DAIN.

Congenital Adrenal Hyperplasia: Clinical Characteristics And Genotype In Newborn, Childhood And Adolescens

MEDICINA (BUENOS AIRES); Año: 2007 vol. 67 p. 253 - 261

SUNDBLAD V; CHIAUZZI V; ANDREONE L; CAMPOS S; CHARREAU E; DAIN L.

Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure (POF).

HUMAN REPRODUCTION; Año: 2006 vol. 21 p. 1154 - 1160

DAIN L.; MINUTOLO C.; BUZZALINO N.; ONETO A.; BELLI S.; CHARREAU E.; ALBA L.

A novel CYP21A2 point mutation in a 21-hydroxylase deficient patient

HUMAN GENETICS.; Año: 2006 vol. 119 p. 363 - 363

L. DAIN; C. MINUTOLO; N. BUZZALINO; S. BELLI; A. ONETO; E. CHARREAU; L. ALBA

A novel CYP21A2 point mutation in a 21-hydroxylase deficient patient. In: Novel human pathological mutations

HUMAN GENETICS.; Año: 2006 vol. 119 p. 359 - 364

SUNDBLAD V.; CHIAUZZI V.; ESCOBAR M.E; DAIN L*; CHARREAU E. *

Screening of Follicle Stimulating Hormone Receptor (FSHr) gene mutations in Argentine women with Premature Ovarian Failure (POF).

MOLECULAR AND CELLULAR ENDOCRINOLOGY.; Año: 2004 vol. 222 p. 53 - 59

SUNDBLAD V.; CHIAUZZI V; DAIN L; CHARREAU E

Estudios preliminares del gen de la inhibina A (INHa) en pacientes con falla ovárica prematura

Revista de la Sociedad Argentina de Endocrinología Ginecológica y Reproductiva; Año: 2004 vol. 11 p. 43 - 48

MARÍ S.; RAWE V.; BIANCOTTI J.C.; CHARREAU E.H.; BRUGO OLMEDO S.; DAIN L.; VAZQUEZ-LEVIN M.

Biochemical And Molecular Studies On The Proacrosin/Acrosin System In Patients With Unexplained Infertility

FERTILITY AND STERILITY; Año: 2003 vol. 79 p. 1676 - 1679

LILIANA DAIN; BUZZALINO N.; ONETTO A.; BELLI S.; STIVEL M.; PASQUALINI T.; MINUTOLO C.; CHARREAU E.; ALBA L.

Classical and Nonclassical 21-Hydroxylase Deficiency: A Molecular Study of Argentine Patients

CLINICAL ENDOCRINOLOGY; Año: 2002 vol. 56 p. 239 - 245

PARBORELL FERNANDA; DAIN, LILIANA BEATRIZ; TESONE MARTA

A Gonadotropin- Releasing Hormone Affects Rat Ovarian Follicle Development By Interfering With Fsh And Growth Factors On

MOLECULAR REPRODUCTION AND DEVELOPMENT; Año: 2001 vol. 60 p. 241 - 247

MARTINEZ-MIR A.; VILELA, C.; BAYES M.; VALVERDE D.; DAIN L.; BENEYTO M.; BAIGET M.; GRINBERG D.; BALCELLS S.; GONZÁLEZ-DUARTE R.; VILAGELIU L.

Putative association of a mutant ROM1 allele with retinitis pigmentosa.

HUMAN GENETICS.; Año: 1997 vol. 99 p. 827 - 830

BARAÑAO R I; DAIN L; POLAK DE FRIED E; RUMI L S

Human granulosa cells express HLA-DR antigen and are capable of synthesizing interleukin 1

HORMONE AND METABOLIC RESEARCH; Lugar: New York; Año: 1995 vol. 27 p. 495 - 498

DAIN L; GUERRERO H; POLAK DE FRIED E; TESONE M

Regulation of the steroidogenic response of cultured human granulosa cells: effect of serum and 25-OH cholesterol.

FERTILITY AND STERILITY; Año: 1995 vol. 64 p. 335 - 339

TESONE M; DAIN L

Regulación de la diferenciación del folículo ovárico en cuerpo lúteo

Boletín de la Sociedad Argentina de Endocrinología Ginecológica y Reproductiva (SAEGRE); Año: 1994 vol. 1 p. 3 - 6

DAIN L; BLEY M; BARAÑAO JL; TESONE M

Evidence for the production of a growth inhibitory factor by human granulosa-luteal cells.

MOLECULAR REPRODUCTION AND DEVELOPMENT; Año: 1993 vol. 36 p. 159 - 163

TESONE M; DAIN L; STEIN P

Cuerpo luteo: Factores que regulan su origen y diferenciación.

Ciencia e Investigación; Año: 1993 vol. 45 p. 145 - 147

DAIN L; STEIN P; KRIMER A; ASCH R; POLAK DE FRIED E; CHARREAU E; TESONE M

Progesterone production in cultured human granulosa cells. Correlation with follicular fluid hormone levels

FERTILITY AND STERILITY; Año: 1991 vol. 55 p. 1093 - 1098

PODHAJCER O.; BRAVO I.; DAIN L.; GUMAN N.; BOVER L.; MORDOH J.

In vitro analysis of cellular proliferative response to 17b estradiol of human breast cancer.

CANCER; Año: 1988 vol. 61 p. 1807 - 1812

KAMINKER P.; DAIN L.; LAMAS M.A; MIGLORINI A. M.; SANCHEZ J.M.

Mosaic trisomy 9 syndrome with unusual phenotype.

AMERICAN JOURNAL OF MEDICAL GENETICS; Año: 1985 vol. 22 p. 237 - 241

NAVARRO M.L.; DAIN L; NAGEL R

Clastogenic activity of two antichagasic drugs

comunicaciones biológicas; Lugar: Buenos Aires; Año: 1984 vol. 3 p. 25 - 28