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Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819
By:
- Klamut, Natalia;
- Bothwell, Samantha;
- Carl, Alexandra E.;
- Bamba, Vaneeta;
- Law, Jennifer R.;
- Brickman, Wendy J.;
- Klein, Karen O.;
- Kanakatti Shankar, Roopa;
- Pinnaro, Catherina T.;
- Fechner, Patricia Y.;
- Prakash, Siddharth K.;
- Gutmark‐Little, Iris;
- Howell, Susan;
- Tartaglia, Nicole;
- Good, Marybel;
- Ranallo, Kelly C.;
- Davis, Shanlee M.
Publication type:
Article
Crinecerfont, a CRF<sub>1</sub> Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2871, doi. 10.1210/clinem/dgad270
By:
- Newfield, Ron S.;
- Sarafoglou, Kyriakie;
- Fechner, Patricia Y.;
- Nokoff, Natalie J.;
- Auchus, Richard J.;
- Vogiatzi, Maria G.;
- Jeha, George S.;
- Giri, Nagdeep;
- Roberts, Eiry;
- Sturgeon, Julia;
- Chan, Jean L.;
- Farber, Robert H.
Publication type:
Article
Population-based Assessment of Cardiometabolicrelated Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1850, doi. 10.1210/clinem/dgac056
By:
- Davis, Shanlee M.;
- Nokoff, Natalie J.;
- Furniss, Anna;
- Pyle, Laura;
- Valentine, Anna;
- Fechner, Patricia;
- Ikomi, Chijioke;
- Magnusen, Brianna;
- Nahata, Leena;
- Vogiatzi, Maria G.;
- Dempsey, Amanda
Publication type:
Article
Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 801, doi. 10.1210/clinem/dgab749
By:
- Auchus, Richard J.;
- Sarafoglou, Kyriakie;
- Fechner, Patricia Y.;
- Vogiatzi, Maria G.;
- Ime, Erik A.;
- Davis, Shanlee M.;
- Giri, Nagdeep;
- Sturgeon, Julia;
- Roberts, Eiry;
- Chan, Jean L.;
- Farber, Robert H.
Publication type:
Article
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
Published in:
JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076
By:
- Eitel, Kelsey B;
- Zenno, Anna;
- Blasi, Carolina Di;
- Fechner, Patricia Y;
- Hodax, Juanita K
Publication type:
Article
The role of SRY in mammalian sex determination.
Published in:
Pediatrics International, 1996, v. 38, n. 4, p. 380, doi. 10.1111/j.1442-200X.1996.tb03512.x
By:
- FECHNER, PATRICIA Y
Publication type:
Article
Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 2, p. 260, doi. 10.1002/ajmg.c.31560
By:
- Byers, Heather M.;
- Mohnach, Lauren H.;
- Fechner, Patricia Y.;
- Chen, Ming;
- Thomas, Inas H.;
- Ramsdell, Linda A.;
- Shnorhavorian, Margarett;
- McCauley, Elizabeth A.;
- Amies Oelschlager, Anne‐Marie E.;
- Park, John M.;
- Sandberg, David E.;
- Adam, Margaret P.;
- Keegan, Catherine E.
Publication type:
Article
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63495
By:
- Huang, Sarah D.;
- Bamba, Vaneeta;
- Bothwell, Samantha;
- Fechner, Patricia Y.;
- Furniss, Anna;
- Ikomi, Chijioke;
- Nahata, Leena;
- Nokoff, Natalie J.;
- Pyle, Laura;
- Seyoum, Helina;
- Davis, Shanlee M.
Publication type:
Article
Ambiguous genitalia: What prenatal genetic testing is practical?
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1337, doi. 10.1002/ajmg.a.35338
By:
- Adam, Margaret P.;
- Fechner, Patricia Y.;
- Ramsdell, Linda A.;
- Badaru, Angela;
- Grady, Richard E.;
- Pagon, Roberta A.;
- McCauley, Elizabeth;
- Cheng, Edith Y.;
- Parisi, Melissa A.;
- Shnorhavorian, Margarett
Publication type:
Article
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Published in:
2015
By:
- Baxter, Ruth M;
- Arboleda, Valerie A;
- Lee, Hane;
- Barseghyan, Hayk;
- Adam, Margaret P;
- Fechner, Patricia Y;
- Bargman, Renee;
- Keegan, Catherine;
- Travers, Sharon;
- Schelley, Susan;
- Hudgins, Louanne;
- Mathew, Revi P;
- Stalker, Heather J;
- Zori, Roberto;
- Gordon, Ora K;
- Ramos-Platt, Leigh;
- Pawlikowska-Haddal, Anna;
- Eskin, Ascia;
- Nelson, Stanley F;
- Délot, Emmanuèle
Publication type:
journal article
Growth Hormone Treatment of Early Growth Failure in Toddlers with Turner Syndrome: A Randomized, Controlled, Multicenter Trial.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 9, p. 3406, doi. 10.1210/jc.2006-2874
By:
- Davenport, Marsha L.;
- Crowe, Brenda J.;
- Travers, Sharon H.;
- Rubin, Karen;
- Ross, Judith L.;
- Fechner, Patricia Y.;
- Gunther, Daniel F.;
- Chunhua Liu;
- Geffner, Mitchell E.;
- Thrailkill, Kathryn;
- Huseman, Carol;
- Zagar, Anthony J.;
- Quigley, Charmian A.
Publication type:
Article
Differences in Follicle-Stimulating Hormone Secretion between 45,X Monosomy Turner Syndrome and 45,X/46,XX Mosaicism Are Evident at an Early Age.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 12, p. 4896, doi. 10.1210/jc.2006-1157
By:
- Fechner, Patricia Y.;
- Davenport, Marsha L.;
- Qualy, Rebecca L.;
- Ross, Judith L.;
- Gunther, Daniel F.;
- Eugster, Erica A.;
- Huseman, Carol;
- Zagar, Anthony J.;
- Quigley, Charmian A.
Publication type:
Article
Sequential Comparisons of One-Month and Three-Month Depot Leuprolide Regimens in Central Precocious Puberty.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1862, doi. 10.1210/jc.2005-1500
By:
- Badaru, Angela;
- Wilson, Darrell M.;
- Bachrach, Laura K.;
- Fechner, Patricia;
- Gandrud, Laura M.;
- Durham, Eileen;
- Wintergerst, Kupper;
- Chi, Carolyn;
- Klein, Karen O.;
- Neely, E. Kirk
Publication type:
Article
Cushing's Syndrome Secondary to isolated Micronodular Adrenocotrical Disease (iMAD) associated with Rapid Onset Weight Gain and Negative Abdominal MRI Findings in a 3 yea old Male.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 6, p. 613, doi. 10.1515/jpem.2010.101
By:
- Henry, Rohan K.;
- Keil, Margaret F.;
- Stratakis, Constantine A.;
- Fechner, Patricia Y.
Publication type:
Article
Hepatic abnormalities in youth with Turner syndrome.
Published in:
Liver International, 2022, v. 42, n. 10, p. 2237, doi. 10.1111/liv.15358
By:
- Singh, Isani;
- Noel, Gillian;
- Barker, Jennifer M.;
- Chatfield, Kathryn C.;
- Furniss, Anna;
- Khanna, Amber D.;
- Nokoff, Natalie J.;
- Patel, Sonali;
- Pyle, Laura;
- Nahata, Leena;
- Cole, Francis S.;
- Ikomi, Chijioke;
- Bamba, Vaneeta;
- Fechner, Patricia Y.;
- Davis, Shanlee M.
Publication type:
Article
Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.
Published in:
2018
By:
- Timmermans, Stefan;
- Yang, Ashelee;
- Gardner, Melissa;
- Keegan, Catherine E.;
- Yashar, Beverly M.;
- Fechner, Patricia Y.;
- Shnorhavorian, Margarett;
- Vilain, Eric;
- Siminoff, Laura A.;
- Sandberg, David E.
Publication type:
journal article
Gender destinies: assigning gender in Disorders of Sex Development‐Intersex clinics.
Published in:
Sociology of Health & Illness, 2019, v. 41, n. 8, p. 1520, doi. 10.1111/1467-9566.12974
By:
- Timmermans, Stefan;
- Yang, Ashelee;
- Gardner, Melissa;
- Keegan, Catherine E.;
- Yashar, Beverly M.;
- Fechner, Patricia Y.;
- Shnorhavorian, Margarett;
- Vilain, Eric;
- Siminoff, Laura A.;
- Sandberg, David E.
Publication type:
Article
Metabolic and ovarian effects of rosiglitazone treatment for 12 weeks in insulin-resistant women with polycystic ovary syndrome.
Published in:
Human Reproduction, 2006, v. 21, n. 1, p. 109, doi. 10.1093/humrep/dei289
By:
- Nicholas A. Cataldo;
- Fahim Abbasi;
- Tracey L. McLaughlin;
- Marina Basina;
- Patricia Y. Fechner;
- Linda C. Giudice;
- Gerald M. Reaven
Publication type:
Article
Prevention of Growth Failure in Turner Syndrome: Long-Term Results of Early Growth Hormone Treatment in the "Toddler Turner" Cohort.
Published in:
Hormone Research in Paediatrics, 2021, v. 94, n. 1-2, p. 18, doi. 10.1159/000513788
By:
- Quigley, Charmian A.;
- Fechner, Patricia Y.;
- Geffner, Mitchell E.;
- Eugster, Erica A.;
- Ross, Judith L.;
- Habiby, Reema L.;
- Ugrasbul, Figen;
- Rubin, Karen;
- Travers, Sharon;
- Antalis, Caryl J.;
- Patel, Hiren N.;
- Davenport, Marsha L.
Publication type:
Article
Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.
Published in:
Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 368, doi. 10.1159/000496114
By:
- Ernst, Michelle M.;
- Gardner, Melissa;
- Mara, Constance A.;
- Délot, Emmanuèle C.;
- Fechner, Patricia Y.;
- Fox, Michelle;
- Rutter, Meilan M.;
- Speiser, Phyllis W.;
- Vilain, Eric;
- Weidler, Erica M.;
- Sandberg, David E.
Publication type:
Article
Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.
Published in:
Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 127, doi. 10.1159/000475992
By:
- Kranenburg, Laura J.C.;
- Reerds, Sam T.H.;
- Cools, Martine;
- Alderson, Julie;
- Muscarella, Miriam;
- Magrite, Ellie;
- Kuiper, Martijn;
- Abdelgaffar, Shereen;
- Balsamo, Antonio;
- Brauner, Raja;
- Chanoine, Jean Pierre;
- Deeb, Asma;
- Fechner, Patricia;
- German, Alina;
- Holterhus, Paul Martin;
- Juul, Anders;
- Mendonca, Berenice B.;
- Neville, Kristen;
- Nordenstrom, Anna;
- Oostdijk, Wilma
Publication type:
Article
Growth Hormone Treatment Does Not Affect Incidences of Middle Ear Disease or Hearing Loss in Infants and Toddlers with Turner Syndrome.
Published in:
Hormone Research in Paediatrics, 2010, v. 74, n. 1, p. 23, doi. 10.1159/000313964
By:
- Davenport, Marsha L.;
- Roush, Jackson;
- Liu, Chunhua;
- Zagar, Anthony J.;
- Eugster, Erica;
- Travers, Sharon;
- Fechner, Patricia Y.;
- Quigley, Charmian A.
Publication type:
Article
A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study.
Published in:
Endocrine (1355008X), 2020, v. 70, n. 1, p. 170, doi. 10.1007/s12020-020-02409-y
By:
- Canalichio, Katie L.;
- Shnorhavorian, Margarett;
- Oelschlager, Anne-Marie Amies;
- Ramsdell, Linda;
- Fisher, Christina;
- Adam, Margaret P.;
- Fechner, Patricia Y.
Publication type:
Article
Correlation of TSH with the risk of paediatric thyroid carcinoma.
Published in:
Clinical Endocrinology, 2012, v. 77, n. 2, p. 316, doi. 10.1111/j.1365-2265.2012.04383.x
By:
- Chiu, Harvey K.;
- Sanda, Srinath;
- Fechner, Patricia Y.;
- Pihoker, Catherine
Publication type:
Article

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