Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'STEROID 21-HYDROXYLASE DEFICIENCY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 115 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. White, PC
      Congenital adrenal hyperplasias

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    2. Mathur, R; Kabra, M; Menon, PSN
      Diagnosis and management of congenital adrenal hyperplasia: Clinical, molecular and prenatal aspects

      NATIONAL MEDICAL JOURNAL OF INDIA
    3. Lajic, S; Robins, T; Krone, N; Schwarz, HP; Wedell, A
      CYP21 mutations in simple virilizing congenital adrenal hyperplasia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    4. New, MI
      Prenatal treatment of congenital adrenal hyperplasia - The United States experience

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    5. Lo, JC; Grumbach, MM
      Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    6. Speiser, PW
      Congenital adrenal hyperplasia: Transition from childhood to adulthood

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    7. Mathur, R; Menon, PSN; Kabra, M; Goyal, RK; Verma, IC
      Molecular characterization of mutations in Indian children with congenitaladrenal hyperplasia due to steroid 21-hydroxylase deficiency

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    8. Loke, KY; Lee, YS; Lee, WWR; Poh, LKS
      Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore

      HORMONE RESEARCH
    9. Honour, JW; Torresani, T
      Evaluation of neonatal screening for congenital adrenal hyperplasia

      HORMONE RESEARCH
    10. Nordenstrom, A; Wedell, A; Hagenfeldt, L; Marcus, C; Larsson, A
      Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants

      PEDIATRICS
    11. Rijnders, RJP; van der Schoot, CE; Bossers, B; de Vroede, MAMJ; Christiaens, GCML
      Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia

      OBSTETRICS AND GYNECOLOGY
    12. Dracopoulou-Vabouli, M; Maniati-Christidi, M; Dacou-Voutetakis, C
      The spectrum of molecular defects of the CYP21 gene in the Hellenic population: Variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    13. Collett-Solberg, PF
      Congenital adrenal hyperplasia: From genetics and biochemistry to clinicalpractice, part 1

      CLINICAL PEDIATRICS
    14. Lee, HH
      CYP21 mutations and congenital adrenal hyperplasia

      CLINICAL GENETICS
    15. Chen, JM; Ferec, C
      Gene conversion-like missense mutations in the human cationic trypsinogen gene and insights into the molecular evolution of the human trypsinogen family

      MOLECULAR GENETICS AND METABOLISM
    16. Speiser, PW; Knochenhauer, ES; Dewailly, D; Fruzzetti, F; Marcondes, JAM; Azziz, R
      A multicenter study of women with nonclassical congenital adrenal hyperplasia: Relationship between genotype and phenotype

      MOLECULAR GENETICS AND METABOLISM
    17. Koppens, PFJ; Hoogenboezem, T; Degenhart, HJ
      CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patientsand in the general population in the Netherlands

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Szilagyi, A; Homoki, J; Bellyei, S; Szabo, I
      Hormonal and clinical effects of chronic gonadotropin-releasing hormone agonist treatment in polycystic ovary syndrome

      GYNECOLOGICAL ENDOCRINOLOGY
    19. Fardella, CE; Poggi, H; Soto, J; Torrealba, I; Cattani, A; Ugarte, F; Cortinez, A; Foradori, A
      Mutations in the CYP21B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    20. Ritzen, EM; Lajic, S; Wedell, A
      How can molecular biology contribute to the management of congenital adrenal hyperplasia?

      HORMONE RESEARCH
    21. Vaidya, B; Pearce, S; Kendall-Taylor, P
      Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure

      CLINICAL ENDOCRINOLOGY
    22. Lee, YH; Park, ES; Kang, SH; Kim, H; Lee, JY; Lee, JS
      Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia

      CLINICAL ENDOCRINOLOGY
    23. Balsamo, A; Cacciari, E; Baldazzi, L; Tartaglia, L; Cassio, A; Mantovani, V; Piazzi, S; Cicognani, A; Pirazzoli, P; Mainetti, B; Zappulla, F
      CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

      CLINICAL ENDOCRINOLOGY
    24. Ibanez, L; Dimartino-Nardi, J; Potau, N; Saenger, P
      Premature adrenarche-normal variant or forerunner of adult disease?

      ENDOCRINE REVIEWS
    25. De Marco, P; Moroni, A; Merello, E; de Franchis, R; Andreussi, L; Finnell, RH; Barber, RC; Cama, A; Capra, V
      Folate pathway gene alterations in patients with neural tube defects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Frias, J; Levine, LS; Oberfield, SE; Pang, S; Silverstein, J; Schwartz, RP; Hansen, IL; Kaufman, F; Varma, SK; Oberfield, SE; Silverstein, J; Levitsky, L; Suriano, MJ; Poulin, L; Cunniff, C; Frias, JL; Kaye, C; Moeschler, JB; Panny, SR; Trotter, TL; de la Cruz, F; Hanson, JW; Lloyd-Puryear, M; Moore, CA; Williams, J; Hoyme, HE; Hall, L
      Technical report: Congenital adrenal hyperplasia

      PEDIATRICS
    27. Witchel, SF
      Molecular diagnosis in the congenital adrenal hyperplasias

      ENDOCRINOLOGIST
    28. Stratakis, CA; Rennert, OM
      Congenital adrenal hyperplasia: Molecular genetics and alternative approaches to treatment

      CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
    29. Carlson, AD; Obeid, JS; Kanellopoulou, N; Wilson, RC; New, MI
      Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment

      JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
    30. Kjellman, M; Holst, M; Backdahl, M; Larsson, C; Farnebo, LO; Wedell, A
      No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours

      CLINICAL ENDOCRINOLOGY
    31. Hsu, NC; Guzov, VM; Hsu, LC; Chung, BC
      Characterization of the consequence of a novel Glu-380 to Asp mutation by expression of functional P450c21 in Escherichia coli

      BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
    32. Spiro, RP; Christian, SL; Ledbetter, DH; New, MI; Wilson, RC; Roizen, N; Rosenfield, RL
      Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia

      PEDIATRIC RESEARCH
    33. Matushkin, YG; Morozova, IN; Morozov, PS
      Theoretical analysis of mutation spectra of cytochrome P450

      MOLECULAR BIOLOGY
    34. Erel, CT; Senturk, LM; Oral, E; Mutlu, H; Colgar, U; Seyisoglu, H; Ertungealp, E
      Results of the ACTH stimulation test in hirsute women

      JOURNAL OF REPRODUCTIVE MEDICINE
    35. Miller, WL
      Dexamethasone treatment of congenital adrenal hyperplasia in utero: An experimental therapy of unproven safety

      JOURNAL OF UROLOGY
    36. Cerame, BI; Newfield, RS; Pascoe, L; Curnow, KM; Nimkarn, S; Roe, TF; New, MI; Wilson, RC
      Prenatal diagnosis and treatment of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    37. Dacou-Voutetakis, C; Dracopoulou, M
      High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    38. Fitness, J; Dixit, N; Webster, D; Torresani, T; Pergolizzi, R; Speiser, PW; Day, DJ
      Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific genein neonatal screening for congenital adrenal hyperplasia

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    39. Nunez, BS; Lobato, MN; White, PC; Meseguer, A
      Functional analysis of four CYP21 mutations from Spanish patients with congenital adrenal hyperplasia

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    40. FOREST MG; MOREL Y; DAVID M
      PRENATAL TREATMENT OF CONGENITAL ADRENAL-HYPERPLASIA

      Trends in endocrinology and metabolism
    41. MILLER WL
      PRENATAL TREATMENT OF CONGENITAL ADRENAL-HYPERPLASIA - A PROMISING EXPERIMENTAL-THERAPY OF UNPROVED SAFETY

      Trends in endocrinology and metabolism
    42. PANG SY
      THE MOLECULAR AND CLINICAL SPECTRUM OF 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY DISORDER

      Trends in endocrinology and metabolism
    43. TRAKAKIS E; CHRYSSIKOPOULOS A; PHOCAS I; SARANDAKOU A; RIZOS D; STAVROPOULOSGIOKAS C
      THE INCIDENCE OF 21-ALPHA-HYDROXYLASE DEFICIENCY IN GREEK HYPERANDROGENIC WOMEN - SCREENING AND DIAGNOSIS

      Gynecological endocrinology
    44. HUGHES IA
      THE MASCULINIZED FEMALE AND INVESTIGATION OF ABNORMAL SEXUAL DEVELOPMENT

      Bailliere's clinical endocrinology and metabolism
    45. TAJIMA T; FUJIEDA K; MIKAMI A; IGARASHI Y; NAKAE J; CUTLER GB
      PRENATAL-DIAGNOSIS OF STEROID 21-HYDROXYLASE DEFICIENCY BY THE MODIFIED POLYMERASE-CHAIN-REACTION TO DETECT SPLICE-SITE MUTATION IN THE CYP21 GENE

      Endocrine journal
    46. Moran, C; Knochenhauer, ES; Azziz, R
      Non-classic adrenal hyperplasia in hyperandrogenism: A reappraisal

      JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
    47. WEDELL A
      AN UPDATE ON THE MOLECULAR-GENETICS OF CONGENITAL ADRENAL-HYPERPLASIA- DIAGNOSTIC AND THERAPEUTIC ASPECTS

      Journal of pediatric endocrinology & metabolism
    48. CISTERNINO M; DONDI E; MARTINETTI M; LORINI R; SALVANESCHI L; CUCCIA M; SEVERI F
      EXAGGERATED 17-HYDROXYPROGESTERONE RESPONSE TO SHORT-TERM ADRENAL STIMULATION AND EVIDENCE FOR CYP21B GENE POINT MUTATIONS IN TRUE PRECOCIOUS PUBERTY

      Clinical endocrinology
    49. QUERCIA N; CHITAYAT D; BABULHIRJI R; NEW MI; DANEMAN D
      NORMAL EXTERNAL GENITALIA IN A FEMALE WITH CLASSICAL CONGENITAL ADRENAL-HYPERPLASIA WHO WAS NOT TREATED DURING EMBRYOGENESIS

      Prenatal diagnosis
    50. BARBER RC; SHAW GM; LAMMER EJ; GREER KA; BIELA TA; LACEY SW; WASSERMAN CR; FINNELL RH
      LACK OF ASSOCIATION BETWEEN MUTATIONS IN THE FOLATE RECEPTOR-ALPHA GENE AND SPINA-BIFIDA

      American journal of medical genetics
    51. Garner, PR
      Congenital adrenal hyperplasia in pregnancy

      SEMINARS IN PERINATOLOGY
    52. NEW MI
      INBORN-ERRORS OF STEROIDOGENESIS

      Steroids
    53. DRESSENDORFER RA; STRASBURGER CJ; BIDLINGMAIER F; KLUG I; KISTNER A; SIEBLER T; KIESS W
      DEVELOPMENT OF A HIGHLY SENSITIVE NONISOTOPIC IMMUNOASSAY FOR THE DETERMINATION OF SALIVARY 17-HYDROXYPROGESTERONE - REFERENCE RANGES THROUGHOUT CHILDHOOD AND ADOLESCENCE

      Pediatric research
    54. VERT IS; PARERA LA; YBERN MLG; MARTIN AL; LOZANO EP; SALA MF; SALA AS
      DEFECTIVE ADRENAL STEROIDOGENESIS IN HIRS UTE WOMEN

      Medicina Clinica
    55. KO TM; KAO CH; HO HN; TSENG LH; HWA HL; HSU PM; CHUANG SM; LEE TY
      CONGENITAL ADRENAL-HYPERPLASIA - MOLECULAR CHARACTERIZATION

      Journal of reproductive medicine
    56. FARDELLA CE; POGGI H; PINEDA P; SOTO J; TORREALBA I; CATTANI A; OESTREICHER E; FORADORI A
      SALT-WASTING CONGENITAL ADRENAL-HYPERPLASIA - DETECTION OF MUTATIONS IN CYP21B GENE IN A CHILEAN POPULATION

      The Journal of clinical endocrinology and metabolism
    57. CHIN DS; SPEISER PW; IMPERATOMCGINLEY J; DIXIT N; ULI N; DAVID R; OBERFIELD SE
      STUDY OF A KINDRED WITH CLASSIC CONGENITAL ADRENAL-HYPERPLASIA - DIAGNOSTIC CHALLENGE DUE TO PHENOTYPIC VARIANCE

      The Journal of clinical endocrinology and metabolism
    58. LAJIC S; WEDELL A; BUI TH; RITZEN EM; HOLST M
      LONG-TERM SOMATIC FOLLOW-UP OF PRENATALLY TREATED CHILDREN WITH CONGENITAL ADRENAL-HYPERPLASIA

      The Journal of clinical endocrinology and metabolism
    59. Killeen, AA; Jiddou, RR; Sane, KS
      Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles

      CLINICAL CHEMISTRY
    60. LOBATO MN; ALEDO R; MESEGUER A
      HIGH VARIABILITY OF CYP21 GENE REARRANGEMENTS IN SPANISH PATIENTS WITH CLASSIC FORM OF CONGENITAL ADRENAL-HYPERPLASIA

      Human heredity
    61. BURCH GH; GONG Y; LIU WH; DETTMAN RW; CURRY CJ; SMITH L; MILLER WL; BRISTOW J
      TENASCIN-X DEFICIENCY IS ASSOCIATED WITH EHLERS-DANLOS-SYNDROME

      Nature genetics
    62. JOEHRER K; GELEY S; STRASSERWOZAK EMC; AZZIZ R; WOLLMANN HA; SCHMITT K; KOFLER R; WHITE PC
      CYP11B1 MUTATIONS CAUSING NONCLASSIC ADRENAL-HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

      Human molecular genetics
    63. PANG SY
      CONGENITAL ADRENAL-HYPERPLASIA

      Bailliere's clinical obstetrics and gynaecology
    64. PANG SY
      CONGENITAL ADRENAL-HYPERPLASIA

      Endocrinology and metabolism clinics of North America
    65. VALENTINO R; SAVASTANO S; TOMMASELLI AP; SCARPITTA MT; DORATO M; GIGANTE M; CALVANESE E; CARLINO M; LOMBARDI G
      SUCCESS OF GLUCOCORTICOID REPLACEMENT THERAPY ON FERTILITY IN 2 ADULTMALES WITH 21-CAH HOMOZYGOTE CLASSIC FORM

      Journal of endocrinological investigation
    66. BOSINSKI HAG; PETER M; BONATZ G; ARNDT R; HEIDENRIECH M; SIPPELL WG; WILLE R
      A HIGHER RATE OF HYPERANDROGENIC DISORDERS IN FEMALE-TO-MALE TRANSSEXUALS

      Psychoneuroendocrinology
    67. TAJIMA T; NISHI Y; TAKASE A; NAKAE J; MURASHITA M; FUJIEDA K
      NO GENETIC MUTATION IN TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN PATIENTS WITH BIOCHEMICAL-EVIDENCE OF ENZYME DEFICIENCY

      Hormone research
    68. EZQUIETA B; JARIEGO C; VARELA JM; OLIVER A; GRACIA R
      MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE

      Prenatal diagnosis
    69. HAYASHI Z; ORIMO H; ARAKI T; SHIMADA T
      PRENATAL-DIAGNOSIS OF STEROID 21-HYDROXYLASE DEFICIENCY BY ANALYSIS OF POLYMERASE CHAIN REACTION-SINGLE STRAND CONFORMATION POLYMORPHISM (PCR-SSCP) PROFILES

      Prenatal diagnosis
    70. ORIOLA J; PAVIA C
      UNSUSPECTED MUTATION IN A FAMILY WITH CONGENITAL ADRENAL-HYPERPLASIA

      American journal of medical genetics
    71. MILLER WL
      PATHOPHYSIOLOGY, GENETICS, AND TREATMENT OF HYPERANDROGENISM

      The Pediatric clinics of North America
    72. BOBBA A; IOLASCON A; GIANNATTASIO S; ALBRIZIO M; SINISI A; PRISCO F; SCHETTINI F; MARRA E
      CHARACTERIZATION OF CAH ALLELES WITH NONRADIOACTIVE DNA SINGLE-STRANDCONFORMATION POLYMORPHISM ANALYSIS OF THE CYP21 GENE

      Journal of Medical Genetics
    73. GUNTHER DF; BUKOWSKI TP; RITZEN EM; WEDELL A; VANWYK JJ
      PROPHYLACTIC ADRENALECTOMY OF A 3-YEAR-OLD GIRL WITH CONGENITAL ADRENAL-HYPERPLASIA - PREOPERATIVE AND POSTOPERATIVE STUDIES

      The Journal of clinical endocrinology and metabolism
    74. CHRYSSIKOPOULOS A
      DETECTION OF CAH HETEROZYGOTES

      Fertility and sterility
    75. UMPIERREZ MB; FACKLER S; UMPIERREZ GE; RUBIN J
      ADRENAL MYELOLIPOMA ASSOCIATED WITH ENDOCRINE DYSFUNCTION - REVIEW OFTHE LITERATURE

      The American journal of the medical sciences
    76. LAJIC S; WEDELL A
      AN INTRON-1 SPLICE MUTATION AND A NONSENSE MUTATION (W23X) IN CYP21 CAUSING SEVERE CONGENITAL ADRENAL-HYPERPLASIA

      Human genetics
    77. HU MC; HSU LC; HSU NC; CHUNG BC
      FUNCTION AND MEMBRANE TOPOLOGY OF WILD-TYPE AND MUTATED CYTOCHROME P-450C21

      Biochemical journal
    78. MUNE T; WHITE PC
      APPARENT MINERALOCORTICOID EXCESS - GENOTYPE IS CORRELATED WITH BIOCHEMICAL PHENOTYPE

      Hypertension
    79. LEE HH; CHAO HT; NG HT; CHOO KB
      DIRECT MOLECULAR DIAGNOSIS OF CYP21 MUTATIONS IN CONGENITAL ADRENAL-HYPERPLASIA

      Journal of Medical Genetics
    80. SIMARD J; DUROCHER F; MEBARKI F; TURGEON C; SANCHEZ R; LABRIE Y; COUET J; TRUDEL C; RHEAUME E; MOREL Y; LUUTHE V; LABRIE F
      MOLECULAR-BIOLOGY AND GENETICS OF THE 3-BETA-HYDROXYSTEROID DEHYDROGENASE DELTA-5-DELTA-4 ISOMERASE GENE FAMILY

      Journal of Endocrinology
    81. RITZEN EM; WEDELL A
      ADRENALS OF PATIENTS WITH SEVERE FORMS OF CONGENITAL ADRENAL-HYPERPLASIA DO MORE HARM THAN GOOD

      The Journal of clinical endocrinology and metabolism
    82. SAKKALALKADDOUR H; ZHANG L; YANG XJ; CHANG YT; KAPPY MS; SLOVER RS; JORGENSEN V; PANG SY
      STUDIES OF 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENES IN INFANTS AND CHILDREN MANIFESTING PREMATURE PUBARCHE AND INCREASED ADRENOCORTICOTROPIN-STIMULATED DELTA(5)-STEROID LEVELS

      The Journal of clinical endocrinology and metabolism
    83. HSU LC; HSU NC; GUZOVA JA; GUZOV VM; CHANG SF; CHUNG BC
      THE COMMON I172N MUTATION CAUSES CONFORMATIONAL CHANGE OF CYTOCHROME P450C21 REVEALED BY SYSTEMATIC MUTATION, KINETIC, AND STRUCTURAL STUDIES

      The Journal of biological chemistry
    84. MEYERBAHLBURG HFL; GRUEN RS; NEW MI; BELL JJ; MORISHIMA A; SHIMSHI M; BUENO Y; VARGAS I; BAKER SW
      GENDER CHANGE FROM FEMALE-TO-MALE IN CLASSICAL CONGENITAL ADRENAL-HYPERPLASIA

      Hormones and behavior
    85. CAMERON FJ; TEBBUTT N; MONTALTO J; YONG ABW; ZACHARIN M; BEST JD; WARNE GL
      ENDOCRINOLOGY AND AUXOLOGY OF SIBSHIPS WITH NONCLASSICAL CONGENITAL ADRENAL-HYPERPLASIA

      Archives of Disease in Childhood
    86. SIMARD J; SANCHEZ R; DUROCHER F; RHEAUME E; TURGEON C; LABRIE Y; LUUTHE V; MEBARKI F; MOREL Y; DELAUNOIT Y; LABRIE F
      STRUCTURE-FUNCTION-RELATIONSHIPS AND MOLECULAR-GENETICS OF THE 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE FAMILY

      Journal of steroid biochemistry and molecular biology
    87. SIMARD J; RHEAUME E; MEBARKI F; SANCHEZ R; NEW MI; MOREL Y; LABRIE F
      MOLECULAR-BASIS OF HUMAN 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY

      Journal of steroid biochemistry and molecular biology
    88. SCHULZE E; SCHARER G; ROGATZKI A; PRIEBE L; LEWICKA S; BETTENDORF M; HOEPFFNER W; HEINRICH UE; SCHWABE U
      DIVERGENCE BETWEEN GENOTYPE AND PHENOTYPE IN RELATIVES OF PATIENTS WITH THE INTRON-2 MUTATION OF STEROID-21-HYDROXYLASE

      Endocrine research
    89. CHRYSSIKOPOULOS A; PHOCAS I; SARANDAKOU A; TRAKAKIS E; RIZOS D
      NEW RELIABLE BIOCHEMICAL MARKER FOR SCREENING 21-ALPHA-HYDROXYLASE DEFICIENCY WITHOUT INDEX PERSON AMONG HIRSUTE WOMEN IN AGREEMENT WITH HLA-HAPLOTYPING

      Journal of endocrinological investigation
    90. KOHN B; DAY D; ALEMZADEH R; ENERIO D; PATEL SV; PELCZAR JV; SPEISER PW
      SPLICING MUTATION IN CYP21 ASSOCIATED WITH DELAYED PRESENTATION OF SALT-WASTING CONGENITAL ADRENAL-HYPERPLASIA

      American journal of medical genetics
    91. CHANG YT; ZHANG L; ALKADDOUR HS; MASON JI; LIN KM; YANG XJ; GARIBALDI LR; BOURDONY CJ; DOLAN LM; DONALDSON DL; PANG SY
      ABSENCE OF MOLECULAR DEFECT IN THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE (3-BETA-HSD) GENE IN PREMATURE PUBARCHE CHILDREN AND HIRSUTEFEMALE-PATIENTS WITH MODERATELY DECREASED ADRENAL 3-BETA-HSD ACTIVITY

      Pediatric research

    92. HYPERANDROGENIC CHRONIC ANOVULATION

      International journal of gynaecology and obstetrics

    93. HYDROANDROGENEMIC CHRONIC ANOVULATION

      Geburtshilfe und Frauenheilkunde
    94. HUIE ML; CHEN AS; BROOKS SS; GRIX A; HIRSCHHORN R
      A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII)

      Human molecular genetics
    95. DONDI E; CUCCIA M; KELLER E; MARTINETTI M; LARIZZA D; ALBERT ED
      MOLECULAR ANALYSIS OF CYP21 GENE-MUTATIONS CARRIED ON HLA-B14 POSITIVE HAPLOTYPES

      European journal of immunogenetics
    96. SPEISER PW; NEW MI
      PRENATAL-DIAGNOSIS AND MANAGEMENT OF CONGENITAL ADRENAL-HYPERPLASIA

      Clinics in perinatology
    97. MOHRENWEISER H
      IMPACT OF THE MOLECULAR-SPECTRUM OF MUTATIONAL LESIONS ON ESTIMATES OF GERMINAL GENE-MUTATION RATES

      MUTATION RESEARCH
    98. ZERAH M; RHEAUME E; MANI P; SCHRAM P; SIMARD J; LABRIE F; NEW MI
      NO EVIDENCE OF MUTATIONS IN THE GENES FOR TYPE-I AND TYPE-II 3-HYDROXYSTEROID DEHYDROGENASE (3-BETA-HSD) IN NONCLASSICAL 3-BETA-HSD DEFICIENCY

      The Journal of clinical endocrinology and metabolism
    99. BALDUCCI R; BOSCHERINI B; MANGIANTINI A; MORELLINI M; TOSCANO V
      ISOLATED PRECOCIOUS PUBARCHE - AN APPROACH

      The Journal of clinical endocrinology and metabolism
    100. AZZIZ R; DEWAILLY D; OWERBACH D
      NONCLASSIC ADRENAL-HYPERPLASIA - CURRENT CONCEPTS

      The Journal of clinical endocrinology and metabolism


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/01/21 alle ore 23:18:48