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Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
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Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
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2000 |
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GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
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54
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Chan YM...Seminara SB
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Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.
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15758562 |
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Insulin-like growth factor I (IGF-I) and IGF-binding protein 3 as diagnostic markers of growth hormone deficiency in infancy.
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6 |
[Study of genic mutations of androgen receptor in hypospadias].
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54
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Li Q...Shen Y
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15835798 |
2004 |
7 |
Mutation analysis of five candidate genes in Chinese patients with hypospadias.
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61
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Wang Y...Shen Y
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15266301 |
2004 |
8 |
Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.
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54
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15201804 |
2004 |
9 |
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
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54
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10 |
Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
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54
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11992480 |
2002 |
11 |
Micropenis and the AR Gene: mutation and CAG repeat-length analysis.
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2001 |
12 |
Recessive Robinow syndrome: with emphasis on endocrine functions.
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61
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Luteinizing hormone resistance syndromes.
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61
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14 |
5 alpha-reductase deficiency in patients with micropenis.
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61
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9061573 |
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15 |
5 alpha-reductase deficiency without hypospadias.
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54
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Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.
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How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients.
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Ea V...Kalfa N
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33468338 |
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan.
61
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Khan S...Yaqoob M
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33437285 |
2021 |
19 |
46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.
61
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Kunitomo M...Pletcher BA
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32949097 |
2020 |
20 |
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.
61
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32853167 |
2020 |
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Reproduction Function in Male Patients With Bardet Biedl Syndrome.
61
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Isabelle K...Sylvie R
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32835378 |
2020 |
22 |
Stretched penile length and anogenital distance in Egyptian boys aged one month to five years.
61
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Fawaz LMA...Badawi NE
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33221178 |
2020 |
23 |
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
61
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Mehvari S...Najmabadi H
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32715656 |
2020 |
24 |
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
61
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Ashraf T...Smithson SF
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32783357 |
2020 |
25 |
Eight rare urinary disorders in a patient with Kallmann syndrome: A case report.
61
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Tian H...Wang G
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33120852 |
2020 |
26 |
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
61
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Demiral M...Ozbek MN
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31782289 |
2020 |
27 |
Sonographic measure techniques of fetal penile length.
61
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Soto AL...Izquierdo OG
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32810976 |
2020 |
28 |
Surgical creation of microphallus for cis-gender female desire for intersex condition.
61
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32864090 |
2020 |
29 |
Total Phallic Reconstruction in the Genetic Male.
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Falcone M...Ralph DJ
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[Microsurgical penile reconstruction in case of intersexuality and after penis carcinoma].
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31 |
Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.
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[Aphallia - report of two cases].
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33 |
Sexual and developmental aspects of 49, XXXXY Syndrome: A case report.
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Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.
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Kurt Colak F...Eksioglu AS
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Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
61
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Wang Q...Yuan H
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32381089 |
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36 |
Review of penile reconstructive techniques.
61
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32152468 |
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Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
61
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33270637 |
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38 |
Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.
61
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Zhang P...Gao J
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Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism.
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Ying H...Xu C
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33299522 |
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40 |
A Comparison Between Hyaluronic Acid and Polylactic Acid Filler Injections for Temporary Penile Augmentation in Patients with Small Penis Syndrome: A Multicenter, Patient/Evaluator-Blind, Comparative, Randomized Trial.
61
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Yang DY...Lee WK
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41 |
Primary Partial Empty Sella presenting with Prepubertal Hypogonadotropic Hypogonadism: A Case Report.
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Matabang MA...Sapang B
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Undervirilized male infant with in utero exposure to maternal use of high dose antifungal therapy.
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Gujral J...Rapaport R
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32944019 |
2020 |
43 |
Stretched penile length and total serum testosterone in term male neonates.
61
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Kareem AJ...Kareem AO
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33244324 |
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44 |
[Association between karyotype 47XYY and 5-alpha reductase deficiency revealed by micropenis: about a case and literature review].
61
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Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.
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Thomas E...Scott DA
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Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.
61
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2019 |
47 |
Normative data on penile and anogenital measurements of term male infants in Sagamu, Nigeria.
61
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Adekoya AO...Oba-Daini OO
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31162733 |
2019 |
48 |
Fate of the micropenis and constitutional small penis: do they grow to normalcy in puberty?
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Han JH...Kim KS
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31447312 |
2019 |
49 |
Laurence-Moon-Bardet-Biedl Syndrome: A Case Report.
61
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Khan BA...Punshi A
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31696011 |
2019 |
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Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts.
61
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Wei L...Song G
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31574874 |
2019 |