| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1007/978-3-030-25905-1_13 |
| P698 | PubMed publication ID | 31588536 |
| P2093 | author name string | Peter Gergics | |
| P2860 | cites work | Panhypopituitarism: genetic versus acquired etiological factors | Q79813007 |
| High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency | Q80385487 | ||
| The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency | Q81429332 | ||
| Neonatal detection of congenital hypothyroidism of central origin | Q81562423 | ||
| Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline | Q84164931 | ||
| Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency | Q84487755 | ||
| Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia | Q84819465 | ||
| Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype | Q84991026 | ||
| Heterozygous defects in PAX6 gene and congenital hypopituitarism | Q85849773 | ||
| Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome | Q86065821 | ||
| Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism | Q87624684 | ||
| Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects | Q87691944 | ||
| Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism | Q88605919 | ||
| Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization | Q90479954 | ||
| Central adrenal insufficiency in children and adolescents | Q90821780 | ||
| Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency | Q91827348 | ||
| Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma | Q93204702 | ||
| Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types | Q28137623 | ||
| Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies | Q28254194 | ||
| Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations | Q28268918 | ||
| Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement | Q28279078 | ||
| A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism | Q28284582 | ||
| Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome | Q28298470 | ||
| Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency | Q28300499 | ||
| Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up | Q28301091 | ||
| TEF, a transcription factor expressed specifically in the anterior pituitary during embryogenesis, defines a new class of leucine zipper proteins | Q28509684 | ||
| Noggin regulates Bmp4 activity during pituitary induction | Q28509962 | ||
| The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling | Q28511535 | ||
| Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development | Q28513783 | ||
| Insm1 controls development of pituitary endocrine cells and requires a SNAG domain for function and for recruitment of histone-modifying factors | Q28583687 | ||
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans | Q28586560 | ||
| Remodeling of Hyperplastic Pituitaries in Hypothyroid us-Subunit Knockout Mice After Thyroxine and 1713-Estradiol Treatment: Role of Apoptosis | Q28587339 | ||
| SOX3 is required during the formation of the hypothalamo-pituitary axis | Q28587871 | ||
| SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland. | Q28589695 | ||
| TGIF inhibits retinoid signaling | Q28590970 | ||
| A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes | Q29147548 | ||
| Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism | Q29543151 | ||
| A census of human transcription factors: function, expression and evolution | Q29622841 | ||
| Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches | Q33397184 | ||
| Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. | Q33942043 | ||
| Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations | Q33942141 | ||
| Differential roles of TGIF family genes in mammalian reproduction | Q34034981 | ||
| Genetics of hypogonadotropic hypogonadism | Q34083260 | ||
| Prevalence and incidence of hypopituitarism in an adult Caucasian population in northwestern Spain | Q34118556 | ||
| Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. | Q34119879 | ||
| Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. | Q34160940 | ||
| Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression | Q34162472 | ||
| Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient | Q34169421 | ||
| Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia | Q34269693 | ||
| European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism | Q34396356 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype | Q34474376 | ||
| Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. | Q38797075 | ||
| AIP mutations and gigantism. | Q38797343 | ||
| Exome Sequencing: Current and Future Perspectives | Q38988654 | ||
| Diagnosis of growth hormone deficiency in the paediatric and transitional age. | Q39038536 | ||
| Pituitary Hypoplasia | Q39286275 | ||
| PAX6 aniridia syndrome: clinics, genetics, and therapeutics | Q39362367 | ||
| Truncation of PITX2 differentially affects its activity on physiological targets. | Q39639579 | ||
| Involvement of the pituitary-specific transcription factor pit-1 in somatolactotrope cell growth and death: an approach using dominant-negative pit-1 mutants | Q40244819 | ||
| Differential requirements for Gli2 and Gli3 in the regional specification of the mouse hypothalamus. | Q41094448 | ||
| Hes1 and Hes5 are required for differentiation of pituicytes and formation of the neurohypophysis in pituitary development. | Q41390946 | ||
| HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype | Q41699409 | ||
| Both Pit-1 and the estrogen receptor are required for estrogen responsiveness of the rat prolactin gene | Q42477441 | ||
| Analysis of Pit-1 in regulating mouse TSH beta promoter activity in thyrotropes | Q42504026 | ||
| Pituitary function and glucose tolerance in a family with a PAX6 mutation | Q42515855 | ||
| OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium | Q42686991 | ||
| PAX6, paired domain influences sequence recognition by the homeodomain | Q42809226 | ||
| The Ets factor Etv1 interacts with Tpit protein for pituitary pro-opiomelanocortin (POMC) gene transcription | Q42813998 | ||
| The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism | Q42834348 | ||
| Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly | Q43536332 | ||
| Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. | Q43761078 | ||
| A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies | Q43941053 | ||
| Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism | Q44505357 | ||
| Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource | Q44763269 | ||
| Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. | Q44996972 | ||
| TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency | Q45100276 | ||
| Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. | Q46317908 | ||
| OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. | Q46482864 | ||
| Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. | Q46520911 | ||
| Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease | Q46532330 | ||
| Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. | Q47146443 | ||
| Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency | Q47271583 | ||
| A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations | Q47275198 | ||
| Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. | Q47279190 | ||
| SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant. | Q47549004 | ||
| Canonical WNT Signaling Regulates the Pituitary Organizer and Pituitary Gland Formation | Q47761078 | ||
| Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome by Exome Sequencing in 20 Patients | Q47955253 | ||
| Changes in chromatin state reveal ARNT2 at a node of a tumorigenic transcription factor signature driving glioblastoma cell aggressiveness. | Q47964508 | ||
| Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. | Q48023173 | ||
| Duplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 gene | Q48100196 | ||
| Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes | Q48132138 | ||
| Multiple Roles of Pitx2 in Cardiac Development and Disease. | Q48172069 | ||
| A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency | Q48234928 | ||
| Axenfeld-Rieger syndrome. | Q48253561 | ||
| Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. | Q48279925 | ||
| Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations | Q48362570 | ||
| Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes | Q48370906 | ||
| A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve | Q48466800 | ||
| PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. | Q48588361 | ||
| Identification of candidate genes for human pituitary development by EST analysis | Q21283769 | ||
| Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies | Q22010621 | ||
| A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 | Q24306603 | ||
| A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif | Q24313957 | ||
| Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss | Q24320099 | ||
| Identification of SOX3 as an XX male sex reversal gene in mice and humans | Q24320278 | ||
| Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 | ||
| Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans | Q24323379 | ||
| ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies | Q24324164 | ||
| Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism | Q24531513 | ||
| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 | ||
| Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency | Q24561792 | ||
| A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency | Q24658065 | ||
| Functional analysis of mutations in TGIF associated with holoprosencephaly | Q24681018 | ||
| Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired | Q26827476 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group | Q28082148 | ||
| Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD | Q28118827 | ||
| Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland | Q37663895 | ||
| Whole-genome copy number variation analysis in anophthalmia and microphthalmia | Q37700820 | ||
| Genetic causes and treatment of isolated growth hormone deficiency—an update | Q37790266 | ||
| Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? | Q37829547 | ||
| A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature | Q37830352 | ||
| Expanding DNA diagnostic panel testing: is more better? | Q37929197 | ||
| Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). | Q37964618 | ||
| Genetic causes of combined pituitary hormone deficiencies in humans | Q38004317 | ||
| Genetic aspects of hypothalamic and pituitary gland development | Q38253519 | ||
| TFClass: a classification of human transcription factors and their rodent orthologs | Q38470978 | ||
| Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. | Q38543146 | ||
| Classical and non-classical causes of GH deficiency in the paediatric age. | Q38782769 | ||
| Defective retinoic acid regulation of the Pit-1 gene enhancer: a novel mechanism of combined pituitary hormone deficiency | Q74604680 | ||
| Exclusion of SIX6 hemizygosity in a child with anophthalmia, panhypopituitarism and renal failure | Q77359214 | ||
| Hypogonadotropic hypogonadism | Q77919849 | ||
| Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment | Q34486033 | ||
| Lack of the ventral anterior homeodomain transcription factor VAX1 leads to induction of a second pituitary | Q34558020 | ||
| Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities | Q34561635 | ||
| HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism | Q34587897 | ||
| New insights into genotype-phenotype correlation for GLI3 mutations | Q34705130 | ||
| Required enhancer-matrin-3 network interactions for a homeodomain transcription program | Q35174629 | ||
| Cellular distribution of Egr1 transcription in the male rat pituitary gland. | Q35228383 | ||
| Interpreting human genetic variation with in vivo zebrafish assays | Q35241649 | ||
| Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia. | Q35441732 | ||
| Human gene-centered transcription factor networks for enhancers and disease variants | Q35537737 | ||
| Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue | Q35587203 | ||
| Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations | Q35659075 | ||
| Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation | Q35680850 | ||
| Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. | Q35770210 | ||
| Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies | Q35899337 | ||
| Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency | Q35964450 | ||
| A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. | Q35970431 | ||
| ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous | Q36122441 | ||
| SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions | Q36172165 | ||
| Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? | Q36214845 | ||
| The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus | Q36288459 | ||
| Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss | Q36311356 | ||
| Ontogeny of the prohormone convertases PC1 and PC2 in the mouse hypophysis and their colocalization with corticotropin and alpha-melanotropin | Q36326425 | ||
| Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. | Q36494440 | ||
| Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans | Q36563310 | ||
| Isolated corticotrophin deficiency | Q36640960 | ||
| Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency | Q36663060 | ||
| All Hormone-Producing Cell Types of the Pituitary Intermediate and Anterior Lobes Derive From Prop1-Expressing Progenitors. | Q36753831 | ||
| Mobilized adult pituitary stem cells contribute to endocrine regeneration in response to physiological demand. | Q37223292 | ||
| Foxo1 Is Required for Normal Somatotrope Differentiation | Q37378646 | ||
| Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center | Q37483886 | ||
| Mutations in TBL1X Are Associated With Central Hypothyroidism. | Q37502569 | ||
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families. | Q37599237 | ||
| Lessons from monogenic causes of growth hormone deficiency | Q48653354 | ||
| Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects | Q48822460 | ||
| A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency | Q48832748 | ||
| Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). | Q48849523 | ||
| OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary | Q48881868 | ||
| High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency | Q48901276 | ||
| Case seminar: a young female with acute hyponatremia and a sellar mass | Q48935688 | ||
| Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia | Q49120156 | ||
| Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities | Q49653037 | ||
| GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. | Q50059403 | ||
| Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. | Q50062725 | ||
| A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure | Q50109771 | ||
| A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. | Q50474247 | ||
| Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. | Q50652325 | ||
| A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. | Q50670904 | ||
| A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. | Q50710615 | ||
| Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients. | Q51340781 | ||
| Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. | Q51509489 | ||
| Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation. | Q51699841 | ||
| A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. | Q51703919 | ||
| A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation. | Q51756861 | ||
| A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. | Q51769564 | ||
| Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). | Q51782653 | ||
| OTX2 mutations contribute to the otocephaly-dysgnathia complex. | Q51784480 | ||
| Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. | Q51850327 | ||
| Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. | Q51912264 | ||
| A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. | Q52029788 | ||
| Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. | Q53029953 | ||
| Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia. | Q53447605 | ||
| Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. | Q53800095 | ||
| Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. | Q54400323 | ||
| Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation. | Q54414359 | ||
| Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | Q55257548 | ||
| GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome | Q55670535 | ||
| Single-cell transcriptomics of 20 mouse organs creates a Tabula Muris | Q57039955 | ||
| The proneural bHLH genes Mash1, Math3 and NeuroD are required for pituitary development | Q57299036 | ||
| Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency | Q57715624 | ||
| Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations | Q58035118 | ||
| CADD: predicting the deleteriousness of variants throughout the human genome | Q58106112 | ||
| FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency | Q58595033 | ||
| Single-cell RNA sequencing reveals novel markers of male pituitary stem cells and hormone-producing cell-types | Q58606033 | ||
| NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement | Q58719632 | ||
| Insulinoma-associated protein 1 (INSM1) is a sensitive and highly specific marker of neuroendocrine differentiation in primary lung neoplasms: an immunohistochemical study of 345 cases, including 292 whole-tissue sections | Q59757458 | ||
| Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients withTPITGene Mutations | Q61647425 | ||
| A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism | Q61647447 | ||
| Déficit hypophysaire combiné multiple : aspects cliniques et génétiques | Q61647450 | ||
| Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment | Q64040502 | ||
| Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature | Q64040632 | ||
| The Glycoprotein α-Subunit is Critical for Secretion and Stability of the Human Thyrotropin β-Subunit | Q68456002 | ||
| P304 | page(s) | 263-298 | |
| P577 | publication date | 2019-01-01 | |
| P1476 | title | Pituitary Transcription Factor Mutations Leading to Hypopituitarism | |
| P478 | volume | 111 |
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